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Gene: Wdr11 MGI:1920230

Gene Summary

Name:

WD repeat domain 11

Synonyms:

2900055P10Rik, Brwd2, Wdr11

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal tail length	Wdr11^em1(IMPC)Mbp	HET	Early adult	9.35×10^-05
increased red blood cell distribution width	Wdr11^em1(IMPC)Mbp	HOM	Early adult	4.45×10^-06
enlarged seminal vesicle	Wdr11^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal skin morphology	Wdr11^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal kidney morphology	Wdr11^em1(IMPC)Mbp	HET	Late adult	0.00
hydrometra	Wdr11^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased exploration in new environment	Wdr11^em1(IMPC)Mbp	HET	Early adult	8.43×10^-05
anophthalmia	Wdr11^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal skin morphology	Wdr11^em1(IMPC)Mbp	HET	Late adult	0.00
iris synechia	Wdr11^em1(IMPC)Mbp	HOM	Early adult	7.60×10^-05
enlarged seminal vesicle	Wdr11^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal coat/ hair morphology	Wdr11^em1(IMPC)Mbp	HET	Early adult	9.31×10^-05
abnormal liver morphology	Wdr11^em1(IMPC)Mbp	HOM	Early adult	0.00
small heart	Wdr11^em1(IMPC)Mbp	HOM	Early adult	0.00
improved glucose tolerance	Wdr11^em1(IMPC)Mbp	HET	Late adult	3.93×10^-05
male infertility	Wdr11^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Wdr11^em1(IMPC)Mbp	HOM	Early adult	0.00
absent seminal vesicle	Wdr11^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged heart	Wdr11^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal skin morphology	Wdr11^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal heart morphology	Wdr11^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal uterus morphology	Wdr11^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal heart morphology	Wdr11^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal spinal cord morphology	Wdr11^em1(IMPC)Mbp	HET	Early adult	0.00
absent seminal vesicle	Wdr11^em1(IMPC)Mbp	HOM	Late adult	0.00
small heart	Wdr11^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged kidney	Wdr11^em1(IMPC)Mbp	HET	Late adult	0.00
absent adrenal gland	Wdr11^em1(IMPC)Mbp	HOM	Late adult	0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Dorso Ventral

78 Images

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X-ray

XRay Images Whole Body Lateral Orientation

34 Images

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Histopathology

Images

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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MicroCT E18.5

Embryo reconstruction

2 Images

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Histopathology

Images

3 Images

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Human diseases caused by Wdr11 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Wdr11 (5 diseases)
Human diseases predicted to be associated with Wdr11 (2921 diseases)

The table below shows human diseases associated to Wdr11 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Generalized joint laxity, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadis...	ORPHA:432
Pituitary Stalk Interruption Syndrome	Death in infancy, Ectopic posterior pituitary, Hypoplasia of penis, Failure to thrive, Septo-opti...	ORPHA:95496
Kallmann Syndrome	Hypoplasia of penis, Reduced bone mineral density, Micropenis, Hypogonadotropic hypogonadism, Cry...	ORPHA:478
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Decreased testicular ...	OMIM:614858
Intellectual Developmental Disorder, Autosomal Recessive 78	Microretrognathia, Microcephaly, High palate, Clinodactyly of the 5th finger, Cubitus valgus, Ret...	OMIM:620237

The table below shows human diseases predicted to be associated to Wdr11 by phenotypic similarity.

Disease	Matching phenotypes	Source
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Deep philtrum, Depressed nasal ridge, Hypotelorism, Deeply set...	ORPHA:2162
Pseudotrisomy 13 Syndrome	Adrenal hypoplasia, Hypotelorism, Holoprosencephaly, Atrial septal defect, Micropenis, Agenesis o...	OMIM:264480
Microform Holoprosencephaly	Hypoplasia of penis, Tented upper lip vermilion, Maternal diabetes, Orofacial cleft, Hypotelorism...	ORPHA:280200
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Death in childhood, Bifid uvula, Dandy-Walker malformation, Anteverted nares, Cryptorchidism, Pat...	OMIM:612938
Trisomy 18	Holoprosencephaly, Atrial septal defect, Iris coloboma, Bilateral single transverse palmar crease...	ORPHA:3380
16P13.11 Microdeletion Syndrome	Holoprosencephaly, Atrial septal defect, Agenesis of corpus callosum, Anteverted nares, Depressed...	ORPHA:261236
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Small scrotum, External genital hypoplasia, Xerostomia, Downturned corners of mouth, ...	ORPHA:398079
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Adrenal hypoplasia, Micrognathia, Abnormal lung lobation, Orofacial cleft, H...	ORPHA:2166
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Increase...	ORPHA:398069
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, Coloboma, High palate, Short philtrum, Clinod...	OMIM:200990
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Conotruncal defect, Downturned corners of mouth, Subcortical cerebral atroph...	ORPHA:96147
Ethanolaminosis	Cardiomegaly	OMIM:227150
Triploidy	Hypoplasia of penis, Micrognathia, Holoprosencephaly, Decreased skull ossification, Iris coloboma...	ORPHA:3376
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Distal Deletion 10P	Hypoplasia of penis, Short stature, Microcephaly, Micrognathia, Cryptorchidism, Hypertelorism, Ab...	ORPHA:1580
Tonne-Kalscheuer Syndrome	Prominent nose, Micrognathia, Hypotelorism, Downturned corners of mouth, Widely spaced teeth, Mic...	OMIM:300978
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Anophthalmia, Cyclopia, Decreased response to growth hormone sti...	OMIM:147250
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Intestinal malrotation, Broad nasal tip, Micrognathia, C...	OMIM:615524
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Ritscher-Schinzel Syndrome 2	Pulmonary artery hypoplasia, High palate, Short philtrum, Atrial septal defect, Clinodactyly of t...	OMIM:300963
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Micrognathia, Coloboma...	OMIM:220210
Chromosome 1Q41-Q42 Deletion Syndrome	Tented upper lip vermilion, Deep philtrum, Hypotelorism, Deeply set eye, High palate, Holoprosenc...	OMIM:612530
Kleefstra Syndrome 1	Mandibular prognathia, Single transverse palmar crease, Conotruncal defect, Micropenis, Hypospadi...	OMIM:610253
Trisomy 1Q	Anophthalmia, Small scrotum, Hypotelorism, Agenesis of corpus callosum, Microretrognathia, Multic...	ORPHA:261344
Mosaic Trisomy 9	Hypoplasia of penis, Micromelia, Micrognathia, Abnormal lung lobation, Hypotelorism, Finger clino...	ORPHA:99776
Cataract-Intellectual Disability-Hypogonadism Syndrome	Abnormal distal phalanx morphology of finger, Hypogonadotropic hypogonadism, Abnormality of the h...	ORPHA:1387
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Recombinant Chromosome 8 Syndrome	Micrognathia, Downturned corners of mouth, Atrial septal defect, Clinodactyly of the 5th finger, ...	OMIM:179613
15Q24 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Coloboma, Mic...	ORPHA:94065
Peroxisome Biogenesis Disorder 1A (Zellweger)	Single transverse palmar crease, Adrenal hypoplasia, Micrognathia, High, narrow palate, Subependy...	OMIM:214100
Trisomy 13	Anophthalmia, High, narrow palate, Abnormal lung lobation, Hypotelorism, Deeply set eye, Atrial s...	ORPHA:3378
49,Xxxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Small scrotum, Depressed nasal ridge, Holoprosencepha...	ORPHA:96264
Chromosome 6Q11-Q14 Deletion Syndrome	Joint laxity, Thin upper lip vermilion, Short stature, Single transverse palmar crease, Prominent...	OMIM:613544
Functioning Gonadotropic Adenoma	Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad...	ORPHA:91348
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, H...	OMIM:614480
Xp22.13P22.2 Duplication Syndrome	Mandibular prognathia, Short stature, Tapered finger, Microcephaly, Broad nasal tip, Hyperteloris...	ORPHA:284180
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Short stature, Microcephaly, Small hand, Narrow palm, Abnor...	ORPHA:1445
Endocrine-Cerebroosteodysplasia	Small scrotum, Single transverse palmar crease, Adrenal hypoplasia, Micromelia, Micrognathia, Pre...	OMIM:612651
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma	OMIM:616428
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Distal Monosomy 7Q36	Hypoplasia of penis, Short stature, Microcephaly, Micrognathia, Cryptorchidism, Bulbous nose, Non...	ORPHA:1636
Fontaine Progeroid Syndrome	Mandibular prognathia, Small scrotum, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Microg...	OMIM:612289
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Widely-spaced maxillary central incisors, Micropen...	OMIM:301040
Obesity And Hypopigmentation	Overgrowth, Hepatic steatosis, Obesity	OMIM:620195
Orofaciodigital Syndrome I	Porencephalic cyst, Lobulated tongue, High palate, Agenesis of corpus callosum, Microretrognathia...	OMIM:311200
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Short metatarsal,...	ORPHA:439822
Jacobsen Syndrome	Micrognathia, Flexion contracture, Clitoral hypoplasia, Holoprosencephaly, Chorioretinal coloboma...	OMIM:147791
Cornelia De Lange Syndrome 5	Proximal placement of thumb, Micrognathia, Downturned corners of mouth, Deeply set eye, High pala...	OMIM:300882
Mehmo Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Microcephaly, B...	OMIM:300148
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Hypoplasia of penis, Aplasia/Hypoplasia involving the nose, Situs inversus totalis, Microglossia,...	ORPHA:990
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi...	OMIM:615382
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Large for gestational age, Ectopic kidney, Gonadotropin defici...	ORPHA:672
Temple Syndrome	Micrognathia, Flexion contracture, High palate, Short philtrum, Bifid uvula, Anteverted nares, De...	OMIM:616222
Rudiger Syndrome	Death in infancy, Depressed nasal bridge, Single transverse palmar crease, Ureterovesical stenosi...	OMIM:268650
Syndromic X-Linked Intellectual Disability 7	Hypoplasia of penis, Short stature, Abnormal dental morphology, Tapered finger, Cryptorchidism, T...	ORPHA:85274
Holoprosencephaly 5	Syntelencephaly, Anteverted nares, Depressed nasal bridge, Alobar holoprosencephaly, Microcephaly...	OMIM:609637
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Distal Deletion 13Q	Encephalocele, Aplasia/Hypoplasia of the thumb, Short stature, Abnormality of the hand, Microceph...	ORPHA:1590
Prader-Willi Syndrome Due To Translocation	External genital hypoplasia, Decreased response to growth hormone stimulation test, Anterior pitu...	ORPHA:177907
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Diffuse cerebral atrophy, Small scrotum, Dental crowding, Micromelia, Proximal pla...	OMIM:270400
Xq27.3Q28 Duplication Syndrome	Short stature, Cryptorchidism, Bulbous nose, Small hand, Short foot, Truncal obesity, Deeply set ...	ORPHA:261483
1Q21.1 Microduplication Syndrome	Hypospadias, Hypertelorism, Cryptorchidism, Hydrocephalus, Hip dislocation, Tetralogy of Fallot, ...	ORPHA:250994
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Abnormal lung lobation, Holoprose...	ORPHA:818
Alkuraya-Kucinskas Syndrome	Small scrotum, Micrognathia, Hypotelorism, Hypoplasia of the brainstem, High palate, Micropenis, ...	OMIM:617822
Hydrolethalus	Anophthalmia, Absent septum pellucidum, Micromelia, Micrognathia, Cryptorchidism, Hydrocephalus, ...	ORPHA:2189
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Multiple joint contractures, Hypoplasia of the pons, Cortical dysplasia, S...	ORPHA:468631
Charge Syndrome	Bifid scrotum, Anophthalmia, Aqueductal stenosis, Abnormal tibia morphology, Holoprosencephaly, C...	ORPHA:138
Global Developmental Delay With Or Without Impaired Intellectual Development	Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Short stature, Bulbous nose, Pa...	OMIM:618330
Short Stature-Micrognathia Syndrome	Small scrotum, Bowing of the legs, Micrognathia, Metaphyseal widening, Hypotelorism, High palate,...	OMIM:617164
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Short toe, Hyperinsulinemia, Obesi...	ORPHA:3085
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Alobar holoprosencephaly, Hypertelorism, Cryptorchidism, High palate...	OMIM:615433
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Micrognathia, Abnormal septum pellucidum morphology, Short palm, Micropenis, Hypospadias, Antever...	ORPHA:171839
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
1Q41Q42 Microdeletion Syndrome	Depressed nasal bridge, Hypergonadotropic hypogonadism, Short stature, Broad nasal tip, Underdeve...	ORPHA:250999
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Cleft ala nasi, Anophthalmia, Cryptorchidism, Orbital encephalocele, ...	OMIM:164180
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Micrognathia, Holoprosencepha...	ORPHA:1908
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Prominent nose, Deeply set eye, Short philtrum, Atrial septal defect, Pul...	OMIM:618316
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Cerebellar vermis hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Laryngot...	OMIM:618454
Prader-Willi syndrome (Type 1)	Truncal obesity	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity	DECIPHER:53
Meckel Syndrome, Type 1	Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Micrognathia, Ambiguous...	OMIM:249000
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Narrow nasal bridge, Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Mandibular progna...	ORPHA:3082
Microphthalmia With Limb Anomalies	Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibia...	OMIM:206920
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Ventricular septal defect, Abnormal external genitalia, Microc...	ORPHA:3469
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary...	OMIM:228300
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:220386
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:93924
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Hypospadias, Abnormality of the philtrum, Microcephaly, Abnormality of the den...	ORPHA:276422
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin resistanc...	ORPHA:90301
Temple Syndrome	Relative macrocephaly, Small for gestational age, Decreased response to growth hormone stimulatio...	ORPHA:254516
Pallister-Hall-Like Syndrome	Occipital encephalocele, Micromelia, Micrognathia, Micropenis, Death in infancy, Depressed nasal ...	OMIM:241800
Microcephaly 26, Primary, Autosomal Dominant	Failure to thrive, Short stature, Prominent nasal bridge, Microcephaly, Hypertelorism, Dysplastic...	OMIM:619179
Ring Chromosome 22 Syndrome	Absent septum pellucidum, Microcephaly, Protruding tongue, Bulbous nose, 2-3 toe syndactyly, Grow...	ORPHA:1446
Bangstad Syndrome	Short stature, Microcephaly, Abnormality of the dentition, Abnormality of the parathyroid gland, ...	ORPHA:1227
Familial Hyperprolactinemia	Osteopenia, Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis, Menorrhagia, Infertility...	ORPHA:397685
3C Syndrome	Hypoplasia of penis, Adrenal hypoplasia, Micrognathia, High, narrow palate, Orofacial cleft, Abno...	ORPHA:7
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Ventricular septal defect, Aplasia/Hypoplasia of the cerebellum, Micromelia,...	ORPHA:2772
Spermatogenic Failure 57	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i...	OMIM:619528
Spermatogenic Failure 50	Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619145
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Pulmonary artery atresia, Vesicoureteral reflux, Micropenis, Agenesis of corpus callosum, Hypospa...	OMIM:301056
Spermatogenic Failure 59	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619645
Spermatogenic Failure 60	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619646
Spermatogenic Failure 74	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619937
Spermatogenic Failure 73	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619878
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Hypoplasia of penis, Anophthalmia, Hypospadias, Ventricular septal defect, Cryp...	ORPHA:77298
Thanatophoric Dysplasia Type 2	Encephalocele, Depressed nasal bridge, Short stature, Micromelia, Hydrocephalus, Patent ductus ar...	ORPHA:93274
Ritscher-Schinzel Syndrome 4	Hypotelorism, Deeply set eye, High palate, Short philtrum, Micropenis, Agenesis of corpus callosu...	OMIM:619435
Raine Syndrome	Mandibular prognathia, Cerebral calcification, Micromelia, Micrognathia, Choanal stenosis, High p...	OMIM:259775
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Depressed nasal bridge, Prominent nasal bridge, Cardiomegaly, Abnormal thu...	ORPHA:324410
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Mandibular prognathia, Cortical dysplasia, Simplified gyral pattern, Micropenis, Joint laxity, Hy...	OMIM:300354
Holoprosencephaly 9	Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi...	OMIM:610829
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Holoprosencephaly, Short palm, Neonatal death, Patent foram...	OMIM:269860
Degcags Syndrome	Osteopenia, Prominent nose, Micrognathia, Bilateral renal hypoplasia, Hypotelorism, High palate, ...	OMIM:619488
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:611638
Walker-Warburg Syndrome	Hypoplasia of penis, Anophthalmia, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Iris col...	ORPHA:899
Short Stature, Microcephaly, And Endocrine Dysfunction	Ectopic kidney, Long nose, Simplified gyral pattern, Hypotelorism, Deeply set eye, Micropenis, Hy...	OMIM:616541
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Microcephaly, Tapered finger, Cryptorchidism, Obesity, Short foot	OMIM:309585
Proboscis Lateralis	Anophthalmia, External genital hypoplasia, Single naris, Orofacial cleft, Abnormality of the maxi...	ORPHA:141099
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Short stature, Decreased fertility, Secondary amenorrhea, Polycyst...	ORPHA:1643
Meningioma	Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent...	ORPHA:2495
Non-Distal Duplication 13Q	Arachnodactyly, Microcephaly, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Abnormali...	ORPHA:1702
Seckel Syndrome 7	Severe short stature, Microcephaly, Prominent nose, Abnormal carpal morphology, Madelung deformit...	OMIM:614851
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Prominent superficial veins, Small for gestational age, Down-sloping shoulders, Short stature, Mi...	OMIM:616817
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Short stature, Tapered finger, Microcephaly, C...	OMIM:301900
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Generalized joint laxity, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadis...	ORPHA:432
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Patchy reduct...	ORPHA:249
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Syndactyly, Microcephaly, 2-4 toe syndactyly, Azoospermia, Male hypogonadism	OMIM:241000
Bardet-Biedl Syndrome 5	Syndactyly, External genital hypoplasia, Obesity, Hypogonadism, Polydactyly, Micropenis, Brachyda...	OMIM:615983
Developmental And Epileptic Encephalopathy 80	Tented upper lip vermilion, Micrognathia, High palate, Triphalangeal thumb, Death in infancy, Tap...	OMIM:618580
Koolen-De Vries Syndrome	Bicuspid aortic valve, Hypotelorism, High palate, Widely spaced teeth, Atrial septal defect, Prom...	OMIM:610443
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Bardet-Biedl Syndrome 11	Obesity	OMIM:615988
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hypospadias, Short stature, Hydrocephalus, Preaxial polydactyly, O...	ORPHA:141333
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Microcephaly, Pericardial effusion, Cleft u...	OMIM:613885
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, Renal cyst, Hypotelorism, Col...	OMIM:616975
Luscan-Lumish Syndrome	Mandibular prognathia, Short stature, Long nose, Irregular menstruation, Obesity, Advanced ossifi...	OMIM:616831
Greig Cephalopolysyndactyly Syndrome	Camptodactyly of toe, Agenesis of corpus callosum, Broad hallux phalanx, Hypospadias, Broad hallu...	OMIM:175700
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Short stature, High, narrow palate, Hydrocephalus, Obesity, Mitra...	ORPHA:2183
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A...	ORPHA:488191
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, Elbow contr...	OMIM:617201
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Mandibular prognathia, Schizencephaly, Microcephaly, Pachygyria, Cryptorchidism, Bulbous nose, Mi...	OMIM:604317
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Aplasia of the phalanges of the 3rd toe, Hypergonadotropic hypogonadism, Precocious puberty, Dila...	ORPHA:2229
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Micrognathia, Hypotelorism, Downturned corners of mouth, Hypoplasia of the brainstem, Oligodontia...	ORPHA:391408
48,Xxyy Syndrome	Hypoplasia of penis, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Abnormal denta...	ORPHA:10
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund...	OMIM:615631
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ...	OMIM:619902
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Ileal atresia, Micrognathia, Holoprosencephaly, Micropenis, Agenesis o...	OMIM:618820
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormal morphology of the radius, Renal insufficiency, Median cleft lip, Abnormal cerebral vascu...	ORPHA:2165
Carpenter Syndrome 1	External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Micrognathia, Hyp...	OMIM:201000
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ulnar deviation of the wrist, Anteverted nares, Micrognathia, Hypertelorism, Cryptorchidism, Hydr...	OMIM:618577
8Q24.3 Microdeletion Syndrome	Branchial cyst, Ectopic posterior pituitary, Congenital hip dislocation, Single transverse palmar...	ORPHA:508488
Spermatogenic Failure 32	Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility	OMIM:618115
Spermatogenic Failure 71	Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility	OMIM:619831
Mental retardation, x-linked, syndromic, Turner type	Tapered finger, Holoprosencephaly, Macrocephaly, Macroorchidism, Limited elbow extension	OMIM:300706
Holoprosencephaly 14	Alobar holoprosencephaly, Aqueductal stenosis, Partial agenesis of the corpus callosum, Aortic va...	OMIM:619895
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Absent gallbladder, Hypoplasia of the ulna, Overriding aorta, Me...	ORPHA:3186
Mccune-Albright Syndrome	Abnormal femur morphology, Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious pubert...	ORPHA:562
Short Syndrome	Delayed eruption of teeth, Enlarged epiphyses, Prominent superficial veins, Rieger anomaly, Small...	OMIM:269880
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Neurooculorenal Syndrome	Decreased circulating cortisol level, Ectopic posterior pituitary, Cerebellar vermis hypoplasia, ...	OMIM:620305
Trisomy 18P	Short stature, Underdeveloped nasal alae, Bilateral cryptorchidism, Microcephaly, Micrognathia, H...	ORPHA:1715
Hadziselimovic Syndrome	Ventricular hypertrophy, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Mic...	OMIM:612946
Down Syndrome	Depressed nasal ridge, Downturned corners of mouth, Microdontia, Clinodactyly of the 5th finger, ...	ORPHA:870
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Chromosome 13Q14 Deletion Syndrome	Single transverse palmar crease, Micrognathia, Deep philtrum, Hypotelorism, High palate, Holopros...	OMIM:613884
Bardet-Biedl Syndrome 7	Depressed nasal bridge, Postaxial polydactyly, Hypertelorism, 2-3 toe syndactyly, Obesity, Deeply...	OMIM:615984
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Multiple Pterygium-Malignant Hyperthermia Syndrome	Small scrotum, Hypotelorism, Downturned corners of mouth, Advanced eruption of teeth, Prominence ...	ORPHA:2215
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Harrod Syndrome	Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Microcephaly, Long nose, Cryptorchidis...	ORPHA:2115
Wilson-Turner Syndrome	Thin upper lip vermilion, Hypogonadotropic hypogonadism, Short stature, Tapered finger, Broad nas...	ORPHA:3459
19P13.12 Microdeletion Syndrome	Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Hypothyroidism, Finger syndacty...	ORPHA:254346
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
Distal Deletion 10Q	Single transverse palmar crease, Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Func...	ORPHA:96148
Microphthalmia, Syndromic 2	Anophthalmia, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Atrial...	OMIM:300166
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Reduced bone minera...	ORPHA:168558
Williams-Beuren Region Duplication Syndrome	Cerebellar vermis hypoplasia, Small for gestational age, Decreased response to growth hormone sti...	OMIM:609757
14Q22Q23 Microdeletion Syndrome	Small scrotum, Anophthalmia, Anterior pituitary hypoplasia, Adrenal hypoplasia, Micrognathia, Dow...	ORPHA:264200
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Atrial septal defect, Thin upper lip vermilion, Overriding aorta, Single transverse palmar crease...	ORPHA:3304
Holoprosencephaly 3	Depressed nasal bridge, Proboscis, Microcephaly, Abnormality of the nose, Cleft lip, Single naris...	OMIM:142945
Charge Syndrome	Anophthalmia, Decreased response to growth hormone stimulation test, External genital hypoplasia,...	OMIM:214800
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Ectopic posterior pituitary, Septo-optic dysplasia, Decreased response to growth horm...	ORPHA:95494
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Deep philtrum...	OMIM:618622
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Multiple joint contractures, Micrognathia, Deeply se...	ORPHA:96170
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Diarrhea 13	Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis	OMIM:620357
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Osteopenia, Hyperparathyroidism, Femoral bowing, Anteverted nares, D...	OMIM:618188
Congenital Generalized Lipodystrophy	Mandibular prognathia, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in...	ORPHA:528
Pituitary Stalk Interruption Syndrome	Death in infancy, Ectopic posterior pituitary, Hypoplasia of penis, Failure to thrive, Septo-opti...	ORPHA:95496
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Osteopenia, Proximal placement of thumb, Short stature, Diastema, Gingival...	OMIM:212066
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Brachydactyly, Ventricular septal defect, Short stature, Abnormality of the philtrum, Non-midline...	ORPHA:1770
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hypospad...	OMIM:613673
Mehmo Syndrome	Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Tapered finger, Microcephaly...	ORPHA:85282
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bicuspid aortic valve, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguo...	ORPHA:1772
Mosaic Variegated Aneuploidy Syndrome	Micrognathia, Depressed nasal ridge, Abnormal lung lobation, Holoprosencephaly, Atrial septal def...	ORPHA:1052
Microphthalmia, Syndromic 9	Anophthalmia, Micrognathia, Agenesis of pulmonary vessels, Atrial septal defect, Pulmonary artery...	OMIM:601186
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility	OMIM:619672
Filippi Syndrome	Ventricular septal defect, Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Cry...	OMIM:272440
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Small for gestational age, Ventricular septal defect, Fifth finger distal phalanx clinodactyly, S...	ORPHA:3369
Holoprosencephaly 7	Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hypotelorism, Hypoplasia of th...	OMIM:610828
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Acrootoocular Syndrome	Abnormal finger flexion crease, Decreased response to growth hormone stimulation test, Decreased ...	ORPHA:2980
Meckel Syndrome 14	Microretrognathia, Occipital encephalocele, Syndactyly, Bowing of the long bones, Anteverted nare...	OMIM:619879
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Depressed nasal bridge, Overlapping toe, Prominent nasal bridge, Ventricula...	OMIM:618974
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Donohue Syndrome	Precocious puberty, Postnatal growth retardation, Long penis, Hyperinsulinemia, Gingival overgrow...	OMIM:246200
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Micrognathia, High palate, Short philtrum, Bifid uvula, Anteverted nares, Depressed nasal bridge,...	ORPHA:96184
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cleft upper lip, Cryptorchidism, Anosmi...	OMIM:244200
Ataxia-Telangiectasia	Recurrent respiratory infections, Failure to thrive, Diabetes mellitus, Short stature, Polycystic...	ORPHA:100
Ring Chromosome 7 Syndrome	Mandibular prognathia, Single transverse palmar crease, Hypotelorism, Short philtrum, Holoprosenc...	ORPHA:1449
Mosaic Variegated Aneuploidy Syndrome 2	Single transverse palmar crease, Decreased response to growth hormone stimulation test, Micrognat...	OMIM:614114
Crossed Polysyndactyly	Finger syndactyly, Hypoplasia of penis, Aplasia/Hypoplasia of the thumb, Depressed nasal bridge, ...	ORPHA:2935
Chung-Jansen Syndrome	Anteverted nares, Tapered finger, Micrognathia, Cryptorchidism, Hypertelorism, Obesity, Deeply se...	OMIM:617991
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Anophthalmia, Dental crowding, Abnormal thymus m...	OMIM:219000
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morp...	ORPHA:85445
Bardet-Biedl Syndrome 16	Recurrent respiratory infections, Renal insufficiency, Short stature, External genital hypoplasia...	OMIM:615993
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib...	ORPHA:52901
Diabetic Embryopathy	Ureteral duplication, Ventricular septal defect, Aplasia/Hypoplasia affecting the eye, Microcepha...	ORPHA:1926
Cerebrooculonasal Syndrome	Cerebellar vermis hypoplasia, Anophthalmia, Downturned corners of mouth, High palate, Iris colobo...	OMIM:605627
Holoprosencephaly 2	Aplasia of the nasal bone, Adrenal hypoplasia, Alobar holoprosencephaly, Hypotelorism, Holoprosen...	OMIM:157170
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Hypertelorism, Pro...	ORPHA:561
Fg Syndrome Type 1	Dental crowding, Single transverse palmar crease, Prominent nose, Micrognathia, Generalized joint...	ORPHA:93932
Microphthalmia, Syndromic 5	Joint laxity, Ectopic posterior pituitary, Anophthalmia, Short stature, Optic nerve hypoplasia, C...	OMIM:610125
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Short stature, Micro...	OMIM:613604
Townes-Brocks Syndrome 1	Bifid scrotum, Short metatarsal, Holoprosencephaly, Chorioretinal coloboma, Triphalangeal thumb, ...	OMIM:107480
Acalvaria	Spina bifida, Hypertelorism, Hydrocephalus, Postaxial hand polydactyly, Abnormal lung lobation, A...	ORPHA:945
Ring Chromosome Y Syndrome	Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge...	ORPHA:261529
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Mandibular prognathia, Thin upper lip vermilion, Small scrotum, Cerebellar vermis hypoplasia, Pro...	OMIM:300486
Microphthalmia, Syndromic 3	Anophthalmia, Anterior pituitary hypoplasia, Coloboma, Micropenis, Agenesis of corpus callosum, V...	OMIM:206900
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, Coxa vara, Hypotelorism, Clinodactyly of the 5th finger, Syndact...	OMIM:614701
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Multiple joint contractures, Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Micro...	ORPHA:2570
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Micrognathia, Deeply set eye, High palate, Atrial se...	OMIM:609029
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Bicuspid aortic valve, Premature thelarche, Abnormal hand morphology, Osteolysis invo...	ORPHA:371428
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Micrognathia, Hypotelorism, Deeply set eye, Narrow greater sciatic notch, High palate, Joint cont...	OMIM:602471
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Depressed nasal ridge, Patellar hypoplasia, Coloboma, Deeply set eye, Ve...	ORPHA:464288
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Epispadias, Partial agenesis...	OMIM:615948
Maternal Hyperthermia-Induced Birth Defects	Hypoplasia of penis, Short stature, Microcephaly, Joint stiffness, Abnormality of neuronal migrat...	ORPHA:2216
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Aqueductal stenosis, Hypoplasia ...	OMIM:619512
Culler-Jones Syndrome	Ectopic posterior pituitary, Short stature, Anterior pituitary hypoplasia, Postaxial polydactyly,...	OMIM:615849
Narcolepsy Type 1	Obesity	ORPHA:2073
Peroxisome Biogenesis Disorder 12A (Zellweger)	Atrial septal defect, Prominence of the premaxilla, Short stature, Microcephaly, Prominent nose, ...	OMIM:614886
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Beaded ribs, Cardiomegaly, Micrognathia, Multiple prenatal fractures, Flexion contrac...	OMIM:616897
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Lipodystrophy, Splenomegaly, Hepatosplenomegal...	OMIM:612526
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Coffin-Siris Syndrome 1	Single transverse palmar crease, Ectopic kidney, Conical tooth, Partial agenesis of the corpus ca...	OMIM:135900
Lig4 Syndrome	Recurrent respiratory infections, Small for gestational age, Microcephaly, Prominent nose, Crypto...	OMIM:606593
Cutis Laxa, Autosomal Recessive, Type Iiia	Congenital hip dislocation, Short stature, Narrow nasal ridge, Hypertelorism, Cryptorchidism, Hip...	OMIM:219150
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Prominent nose, Hypotelorism, Atrial septal defect, Bifid uvula, Dandy-Walker malformation, Joint...	OMIM:300968
Peters Plus Syndrome	Ureteral duplication, Micromelia, Micrognathia, Bicuspid pulmonary valve, Clitoral hypoplasia, Ab...	ORPHA:709
Bardet-Biedl Syndrome 10	Renal insufficiency, Obesity, Renal cyst, Polydactyly, Hypogonadism	OMIM:615987
Adiposis Dolorosa	Obesity, Painful subcutaneous lipomas	OMIM:103200
Hartsfield Syndrome	Alobar holoprosencephaly, Gonadotropin deficiency, Hypotelorism, Micropenis, Agenesis of corpus c...	OMIM:615465
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Elevated cir...	OMIM:101800
Preeclampsia	Increased body mass index, Small for gestational age, Proteinuria, Chronic kidney disease, Polycy...	ORPHA:275555
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Chromosome Xq27.3-Q28 Duplication Syndrome	Small for gestational age, Short stature, Cryptorchidism, Increased circulating gonadotropin leve...	OMIM:300869
Intellectual Developmental Disorder, Autosomal Recessive 5	Small for gestational age, Prominent nasal bridge, Short stature, Prominent nose, Microcephaly, U...	OMIM:611091
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Dental crowding, Ectopic kidney, High palate, Short philtrum, Long toe, Hy...	ORPHA:3063
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th...	ORPHA:2753
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content, Failure to thriv...	OMIM:232700
Microphthalmia With Limb Anomalies	Micrognathia, Venous insufficiency, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2n...	ORPHA:1106
Bardet-Biedl Syndrome 19	Atrial septal defect, Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydactyly,...	OMIM:615996
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Small scrotum, Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors...	OMIM:309580
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Meckel Syndrome	Ureteral duplication, Anophthalmia, Micrognathia, Depressed nasal ridge, Urethral atresia, Dandy-...	ORPHA:564
Central Precocious Puberty In Male	Abnormality of the testis size, Pituitary microadenoma, Hydrocephalus, Overgrowth, Hypothalamic h...	ORPHA:649929
46,Xx Gonadal Dysgenesis	Osteopenia, Streak ovary, Premature ovarian insufficiency, Arachnodactyly, Short stature, Microce...	ORPHA:243
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Microcephaly, Cryptorchidism, Posta...	ORPHA:139471
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes	ORPHA:3055
Obesity Due To Melanocortin 4 Receptor Deficiency	Childhood-onset truncal obesity, Obesity, Increased adipose tissue	ORPHA:71529
Congenital Disorder Of Glycosylation, Type Iie	Micrognathia, Secundum atrial septal defect, Death in infancy, Short stature, Perimembranous vent...	OMIM:608779
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Decreased response to growth hormone stimulation test, Long nose, Clinodactyly, High palate, Shor...	OMIM:615866
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ...	ORPHA:226307
Proteus-Like Syndrome	Communicating hydrocephalus, Mandibular prognathia, Thymus hyperplasia, Anteverted nares, Venous ...	ORPHA:2969
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Decreased serum estradiol, ...	ORPHA:90796
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level	OMIM:103900
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Aplasia of the 1st metacarpal, Hypotelorism, Micropenis, Pelvic kidney, Agenesis ...	OMIM:227646
Prader-Willi Syndrome	Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita...	OMIM:176270
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Toe syndactyly, Short stature, Camptodactyly of finger, Prominent nasal brid...	ORPHA:3409
Cowden Syndrome 6	Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Progressive macroc...	OMIM:615109
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Alobar holoprosencephaly, Micrognathia, Aplasia of the nose, Patent forame...	OMIM:301043
Kleefstra Syndrome	Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Re...	ORPHA:261494
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Anteverted nares, Short stature, Hypertelorism, Carious teeth, Cryptorchidism, Hydrocephalus, Abn...	ORPHA:2701
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect, Small for gestational age, Short stature, Sagittal craniosynostosis, W...	OMIM:314320
Trigonocephaly 1	Craniosynostosis, Microcephaly, High, narrow palate, Long penis, Wide nasal bridge, Hypotelorism,...	OMIM:190440
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Narrow nasal bridge, Mandibular prognathia, Brachydactyly, Severe short stature, Microcephaly, Ab...	ORPHA:2511
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista...	ORPHA:280356
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Relative macrocephaly, Micrognathia, Precocious puberty, Postnatal growth retardation, Acromicria...	ORPHA:254525
8P23.1 Microdeletion Syndrome	Proximal placement of thumb, Micrognathia, Deeply set eye, High palate, Biparietal narrowing, Atr...	ORPHA:251071
Distal Deletion 15Q	Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyl...	ORPHA:1596
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Spermatogenic Failure, X-Linked, 5	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A...	OMIM:301099
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Bowing of the legs, Micrognathia, Flexion contracture, Encephalocele, Cryptorchidism,...	ORPHA:1865
Stankiewicz-Isidor Syndrome	Ureteral duplication, Hypospadias, Truncus arteriosus, Ventricular septal defect, Absent thumb, P...	OMIM:617516
Holoprosencephaly 1	Median cleft lip and palate, Diabetes insipidus, Cyclopia, Adrenal hypoplasia, Alobar holoprosenc...	OMIM:236100
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, ...	OMIM:619148
Bardet-Biedl Syndrome 4	Syndactyly, External genital hypoplasia, Abnormality of the dentition, Cryptorchidism, Obesity, R...	OMIM:615982
Baraitser-Winter Syndrome 1	Bicuspid aortic valve, Orofacial cleft, Chorioretinal coloboma, Micropenis, Pachygyria, Agenesis ...	OMIM:243310
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Anteverted nares, Abnormal dental enamel morphology...	ORPHA:1515
Neu-Laxova Syndrome	Osteopenia, Cerebral calcification, External genital hypoplasia, Micromelia, Micrognathia, Flexio...	ORPHA:2671
Spermatogenic Failure 20	Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility	OMIM:617593
Pierpont Syndrome	Deeply set eye, Widely spaced teeth, Prominent fingertip pads, Joint laxity, Hypertelorism, Crypt...	ORPHA:487825
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Micrognathia, Coloboma, Vesicoureteral reflux, Broad hallux, Hypospadias, Exaggerated cupid's bow...	OMIM:618659
Monosomy 18P	Short stature, Microcephaly, Micrognathia, Carious teeth, Wide nasal bridge, Cleft palate, Downtu...	ORPHA:1598
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Recurrent respiratory infections, Cerebral white matter atrophy, Thin upper lip vermi...	ORPHA:329178
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Ambiguous genitalia, Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han...	OMIM:200600
Lowry-Maclean Syndrome	Osteopenia, Single transverse palmar crease, Micrognathia, Bilateral cryptorchidism, Hypoplasia o...	ORPHA:2409
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the...	ORPHA:193
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Bilateral cryptorchidis...	OMIM:305400
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, High palate, Abnormality o...	ORPHA:84
Cowden Syndrome 1	Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Progressive macroc...	OMIM:158350
Joubert Syndrome 37	Wide nose, Cerebellar vermis hypoplasia, Anteverted nares, Short stature, Postaxial polydactyly, ...	OMIM:619185
Obesity Due To Prohormone Convertase I Deficiency	Increased adipose tissue, Obesity, Cholestasis, Failure to thrive, Childhood-onset truncal obesity	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Increased adipose tissue, Obesity, Cholestasis, Failure to thrive, Childhood-onset truncal obesity	ORPHA:71526
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Wide nose, Maturity-onset diabetes of the young, Micrognathia, Precocious puberty, Postnatal grow...	ORPHA:254531
1Q21.1 Microdeletion Syndrome	Deeply set eye, High palate, Clinodactyly of the 5th finger, Vesicoureteral reflux, Agenesis of c...	ORPHA:250989
Cowden Syndrome 5	Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Progressive macroc...	OMIM:615108
Desmosterolosis	Micromelia, Micrognathia, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Increased bone mi...	ORPHA:35107
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituit...	ORPHA:98754
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Short stature, Abnormal morphology of ulna, Decreased fertility, Obesity, Mitral valve prolapse, ...	ORPHA:2233
Focal Dermal Hypoplasia	Ureteral duplication, Congenital hip dislocation, Cleft ala nasi, Anophthalmia, Osteopathia stria...	OMIM:305600
Summitt Syndrome	Obesity	OMIM:272350
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Deeply set eye, Short philtrum, ...	ORPHA:819
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Bowing of the long bones, Congenital hip dislocation, Prominent superficial veins, Na...	OMIM:612940
Tetralogy Of Fallot	Abnormal nasal morphology, Cryptorchidism, Proptosis, Thin vermilion border, Clinodactyly of the ...	ORPHA:3303
Intellectual Developmental Disorder, Autosomal Recessive 13	Hypertelorism, Cleft upper lip, Wide nasal bridge, Mild microcephaly, Hypotelorism, Truncal obesi...	OMIM:613192
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Bicuspid aortic valve, Tracheobronchomalacia, Hypoplasia of the brainstem, Abnormal periventricul...	ORPHA:500159
Laurence-Moon Syndrome	Finger syndactyly, Hypoplasia of penis, Brachydactyly, Short stature, Renal insufficiency, Crypto...	ORPHA:2377
48,Xxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Small scrotum, Depressed nasal ridge, Clinodactyly of...	ORPHA:96263
Tatton-Brown-Rahman Syndrome	Mandibular prognathia, Joint hypermobility, Proportionate short stature, Hypertelorism, Cryptorch...	ORPHA:404443
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hepatic steatosis, Pancreatitis, Lipoatrophy	ORPHA:79084
Angelman Syndrome	Mandibular prognathia, Precocious puberty in females, Cerebral dysmyelination, Microcephaly, Prot...	ORPHA:72
Combined Oxidative Phosphorylation Deficiency 54	Microretrognathia, Hypergonadotropic hypogonadism, Hypertelorism, Dysplastic corpus callosum, Obe...	OMIM:619737
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Anteverted nares, Tapered finger, Broad nasal tip...	OMIM:300602
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Micrognathia, Clinodactyly, Flexion contracture, Hypotelorism, Deeply set eye, Oligodontia, High ...	OMIM:309590
Hartsfield Syndrome	Encephalocele, Depressed nasal bridge, Craniosynostosis, Hypertelorism, Non-midline cleft lip, Sp...	ORPHA:2117
Prader-Willi Syndrome	Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita...	ORPHA:739
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituit...	ORPHA:177901
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Megalencephaly, Hydrocephalus, Postaxial hand polydactyly, Thick corpus callosum, Mac...	OMIM:615938
Kallmann Syndrome	Hypoplasia of penis, Reduced bone mineral density, Micropenis, Hypogonadotropic hypogonadism, Cry...	ORPHA:478
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituit...	ORPHA:98793
Inverted Duplicated Chromosome 15 Syndrome	Ventricular septal defect, Unilateral renal agenesis, Microcephaly, Precocious puberty, Cryptorch...	ORPHA:3306
Trichothiodystrophy	Osteopenia, Multiple joint contractures, High, narrow palate, Partial agenesis of the corpus call...	ORPHA:33364
Fraser Syndrome	Hypoplasia of penis, Small scrotum, Cleft ala nasi, Anophthalmia, Dental crowding, Abnormal lung ...	ORPHA:2052
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, External genital hypoplasia, Patellar hypoplasia, Deeply...	ORPHA:3041
Isochromosomy Yp	Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility	ORPHA:98797
Diastrophic Dysplasia	Cerebral calcification, Proximal placement of thumb, Micromelia, Micrognathia, Symphalangism affe...	ORPHA:628
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituit...	ORPHA:177904
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Depressed nasal bridge, Anteverted nares, Pneumonia, Micrognathia, Hypertelorism, Shor...	OMIM:242860
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short stature, Megalencep...	OMIM:600325
Spermatogenic Failure, X-Linked, 6	Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage...	OMIM:301101
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Hypodysplasia of the corpus callosum, Micrognathia, Renal cyst, Atrial septal defe...	OMIM:257300
Infantile Systemic Hyalinosis	Osteopenia, Micromelia, Short palm, Aplasia/Hypoplasia of the thymus, Abnormal dental morphology,...	ORPHA:2176
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Obesity,...	OMIM:615300
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Trisomy 5P	Hypoplasia of penis, Short stature, Hypertelorism, Obesity, Macrocephaly, Abnormal metacarpal mor...	ORPHA:1742
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu...	OMIM:301045
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for gestational age	OMIM:601820
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Developmental And Epileptic Encephalopathy 36	Microretrognathia, Anteverted nares, Microcephaly, Hypertelorism, Hydrocephalus, Flexion contract...	OMIM:300884
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Cerebellar vermis hypoplasia, Single transverse palmar crease, Micrognathia, Glossopt...	OMIM:611209
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Bresek Syndrome	Decreased testicular size, Aganglionic megacolon, Optic nerve hypoplasia, Convex nasal ridge, Mic...	ORPHA:85284
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Microcephaly, Micrognathia, Cryptorchidism, Male pseud...	ORPHA:2075
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Proteinuria, Membranoproliferative glomerulonephritis, Polycystic ovaries, Hem...	OMIM:608709
Satoyoshi Syndrome	Short stature, Tapered finger, Nephrogenic diabetes insipidus, Abnormality of the humerus, Microc...	ORPHA:3130
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Secundum atrial septal defect, Flexion contracture, Hypotelorism, Downturned corner...	OMIM:264090
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Ventricular septal defect, Intestinal malrotation, Microcephaly, Cryptorchidism, Thi...	OMIM:617798
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Truncal obesity, Obesity, Large for gestational age	OMIM:240900
Hepatic Adenomas, Familial	Maturity-onset diabetes of the young, Polycystic ovaries	OMIM:142330
Lissencephaly, X-Linked, 1	Death in infancy, Postnatal growth retardation, Gray matter heterotopia, Lissencephaly, Micropeni...	OMIM:300067
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Volvulus, Clubbing of fingers, Gingival bleeding, Left ventricular hype...	ORPHA:335
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Schaaf-Yang Syndrome	Mandibular prognathia, Failure to thrive in infancy, Rocker bottom foot, Short stature, Tapered f...	OMIM:615547
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Large for gestational age	ORPHA:2432
Trisomy 17P	Hypoplasia of penis, Prominent nose, Micrognathia, Flexion contracture, Orofacial cleft, High pal...	ORPHA:261290
Joubert Syndrome 1	Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, An...	OMIM:213300
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Abnormal sperm motility, Male infertility, Abnormal atrial arrangement, R...	ORPHA:244
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Prominent nose, Microg...	OMIM:210710
6P22 Microdeletion Syndrome	Finger syndactyly, Hydrocephalus, Patent ductus arteriosus, Hypotelorism, Deeply set eye, Clinoda...	ORPHA:251046
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ...	OMIM:604229
Radio-Tartaglia Syndrome	Dental crowding, Micrognathia, High, narrow palate, Deeply set eye, High palate, Short philtrum, ...	OMIM:619312
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Opitz Gbbb Syndrome	Bifid scrotum, Micrognathia, High palate, Atrial septal defect, Vesicoureteral reflux, Patent for...	ORPHA:2745
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Micrognathia, High, narrow palate, Hypotelo...	OMIM:620156
Monosomy 18Q	Mandibular prognathia, Abnormal palmar dermatoglyphics, Prominent nose, Bilateral cryptorchidism,...	ORPHA:1600
Neu-Laxova Syndrome 1	Micromelia, Micrognathia, Swollen lip, Calcaneovalgus deformity, Depressed nasal ridge, Neonatal ...	OMIM:256520
Icf Syndrome	Communicating hydrocephalus, Recurrent respiratory infections, Depressed nasal bridge, Short stat...	ORPHA:2268
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Large for gestational age	OMIM:256450
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Reduced sperm motility, Acephalic spermatozoa, Abnormal sperm ...	ORPHA:529970
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Cerebral calcification, Hypogonadotropic hypogonadism, A...	ORPHA:377
Peters-Plus Syndrome	Hypoplasia of the vagina, Ureteral duplication, Short lingual frenulum, Bilobate gallbladder, Sin...	OMIM:261540
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Intellectual Developmental Disorder, Autosomal Dominant 7	Hallux valgus, Thin upper lip vermilion, Small for gestational age, Failure to thrive in infancy,...	OMIM:614104
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Vissers-Bodmer Syndrome	Short stature, Tapered finger, Decreased head circumference, Holoprosencephaly, Decreased body we...	OMIM:619033
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Micrognathia, Epispadias, Abnormal fallopian tube morphology, Agenesis of corpus ca...	ORPHA:2556
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Smooth philtrum, Depressed nasal bridge, Single transverse palmar crease, ...	OMIM:617804
Coffin-Siris Syndrome 12	Micrognathia, Hypotelorism, Deeply set eye, Hippocampal atrophy, High palate, Hypothyroidism, Pat...	OMIM:619325
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Diabetes mellitus, Hypospadias, Anteverted nares, Depres...	OMIM:614613
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Periventricular cysts, Orofacial cleft, Downturned...	OMIM:194190
Trichothiodystrophy 3, Photosensitive	Natal tooth, Meckel diverticulum, Short stature, Bilateral cryptorchidism, Carious teeth, Pyloric...	OMIM:616395
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st...	OMIM:129900
Acromelic Frontonasal Dysostosis	Preaxial polydactyly, Patellar hypoplasia, Cavum septum pellucidum, Short tibia, Agenesis of corp...	OMIM:603671
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Enlarged kidney	OMIM:615285
Williams Syndrome	Osteopenia, Nephrocalcinosis, Microdontia, Abnormality of the diencephalon, Hypogonadotropic hypo...	ORPHA:904
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Single transverse palmar crease, Micrognathia, Secundum atrial septal defect, Deep philtrum, Shor...	OMIM:619951
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Small for gestational age, Abnormal lung morphology, Cleft palate, Upper limb phocome...	ORPHA:294975
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Protruding tongue, Respiratory tract infection, Hydrocephalus, Gingival ...	ORPHA:93400
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Depressed nasal r...	ORPHA:950
Ulnar-Mammary Syndrome	Deformed radius, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplas...	OMIM:181450
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi...	OMIM:151050
Silver-Russell Syndrome	Dental crowding, Micrognathia, Downturned corners of mouth, Abnormal appendicular skeleton morpho...	ORPHA:813
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Decreased response to growth hormone stimulation test, Proximal placement ...	OMIM:601808
Cockayne Syndrome Type 2	Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Cryptorchidism, Hypoplasi...	ORPHA:90322
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Hypergonadotropic hypogonadism, Short stature, Insulin-resistant diabetes mellitus, Broad palm, S...	OMIM:268020
Carney Complex	Neoplasm of the stomach, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, L...	ORPHA:1359
Atkin-Flaitz Syndrome	Anteverted nares, Short stature, Broad nasal tip, Hypertelorism, Abnormality of the dentition, Ob...	ORPHA:1193
Morbid Obesity And Spermatogenic Failure	Hepatic steatosis, Obesity	OMIM:615703
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Hypoplastic right heart, Micrognathia, Preaxial polydactyly, High palate, Atrial septal defect, M...	OMIM:618142
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Robinow Syndrome	Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Orofacial cleft, Clito...	ORPHA:97360
Intellectual Developmental Disorder, Autosomal Dominant 58	Short stature, Single transverse palmar crease, Dental crowding, Hypertelorism, Broad nasal tip, ...	OMIM:618106
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Mandibular prognathia, Anteverted nares, Tapered finger, Hypertelorism, Small hand, Thick corpus ...	OMIM:618672
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Beemer Lethal Malformation Syndrome	Ambiguous genitalia, Hydrocephalus, Wide nasal bridge	OMIM:209970
Moebius Syndrome	Abnormal nasopharynx morphology, Micrognathia, Hypoplasia of the brainstem, High palate, Lower li...	OMIM:157900
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites	ORPHA:890
Schilbach-Rott Syndrome	Hypospadias, Short stature, Microcephaly, Prominent nose, Long nose, 2-3 toe cutaneous syndactyly...	OMIM:164220
Blomstrand Lethal Chondrodysplasia	Micrognathia, Neonatal short-limb short stature, Distal shortening of limbs, Short metacarpal, In...	ORPHA:50945
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Prominent nose, Abnormal cerebral vascular morphology, Coxa vara, Hypoplastic iliac w...	ORPHA:2637
C Syndrome	Micromelia, Micrognathia, Clinodactyly, High palate, Thick anterior alveolar ridges, Dislocated r...	OMIM:211750
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Short stature, Metatars...	ORPHA:1388
Spermatogenic Failure 29	Non-obstructive azoospermia, Male infertility, Immotile sperm	OMIM:618091
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s...	OMIM:301059
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat...	ORPHA:2235
Vacterl With Hydrocephalus	Absence of the sacrum, Anophthalmia, Spina bifida, Micrognathia, Aqueductal stenosis, Cryptorchid...	ORPHA:3412
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Reduced cerebral white matter volume, Large for gestational age, Palmoplantar hyperkeratosis, Sho...	OMIM:280000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Postaxial hand polydactyly, Hemimegalencephaly, Hypoplasia of the corpus callosum,...	OMIM:615937
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Smooth philtrum, Syndactyly, Joint laxity, Depressed nasal bridge, Ventricular septal defect, Meg...	OMIM:602501
Spermatogenic Failure 25	Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia	OMIM:617960
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante...	OMIM:269400
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Depressed nasal...	ORPHA:794
Oculodentodigital Dysplasia	Mandibular prognathia, Cerebral calcification, Micrognathia, Hypotelorism, Deeply set eye, Aplasi...	ORPHA:2710
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Vici Syndrome	Schizencephaly, Cerebellar vermis hypoplasia, Micrognathia, Hypotelorism, Abnormal thymus morphol...	OMIM:242840
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Elevated circulating thyroid-...	OMIM:601812
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Bifid scrotum, Epispadias, Depressed nasal ridge, Pachygyria, Abnormal penis morphology, Encephal...	ORPHA:2211
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Micrognathia, Bilateral cryptorchidism, Preaxial polydactyly, Finge...	ORPHA:2754
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo...	OMIM:201810
Adenocarcinoma Of The Esophagus	Obesity	ORPHA:99976
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Single transverse palmar crease, Micrognathia, Simplified gyral pattern, ...	ORPHA:96121
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Severe periodontitis, Deep philtrum, Depressed nasal ridge, Premature loss...	ORPHA:99843
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Femoral b...	OMIM:201750
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Septo-optic dysplasia, Aplasia/Hypoplasia involving the nose, Abnor...	ORPHA:3301
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly, Coloboma, Nephronophthisis, Ambiguous genitalia, Micropenis	OMIM:614464
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Decreased palmar creases, Decreased serum estradiol, Triphalangeal thumb, Aplasia of ...	ORPHA:2232
49,Xxxyy Syndrome	Eunuchoid habitus, Mandibular prognathia, External genital hypoplasia, Abnormality of the testis ...	ORPHA:261534
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Recurrent upper respiratory tract infections, Recurrent pneumonia, Obesit...	OMIM:614962
Lissencephaly 1	Dilation of Virchow-Robin spaces, Subcortical band heterotopia, Abnormal cerebral white matter mo...	OMIM:607432
Simpson-Golabi-Behmel Syndrome, Type 2	Recurrent respiratory infections, Postaxial hand polydactyly, Recurrent upper respiratory tract i...	OMIM:300209
Microphthalmia, Syndromic 6	Small scrotum, Anophthalmia, Single transverse palmar crease, Adrenal hypoplasia, Micrognathia, C...	OMIM:607932
Wagr Syndrome	Short stature, Microcephaly, Micrognathia, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the iri...	ORPHA:893
Chromosome 3Pter-P25 Deletion Syndrome	Micrognathia, Downturned corners of mouth, High palate, Atrioventricular canal defect, Anteverted...	OMIM:613792
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Antev...	ORPHA:59315
Kabuki Syndrome	Hypoplasia of penis, Orofacial cleft, Coloboma, High palate, Widely spaced teeth, Microdontia, Hy...	ORPHA:2322
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis	OMIM:618400
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Single trans...	ORPHA:536471
Megalencephaly	Atrial septal defect, Long penis, Wide nasal bridge, Genu valgum, Truncal obesity, Deeply set eye...	ORPHA:2477
Gordon Syndrome	Finger syndactyly, Short stature, Camptodactyly of finger, Cryptorchidism, Limitation of joint mo...	ORPHA:376
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Rhizomelia, Ventricular septal defect, Proximal placement of thumb, Mic...	ORPHA:93267
Congenital Disorder Of Glycosylation, Type Iu	Thin upper lip vermilion, Cerebral white matter atrophy, Death in infancy, Micrognathia, Hypotelo...	OMIM:615042
Non-Acquired Panhypopituitarism	Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog...	ORPHA:90695
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
47,Xyy Syndrome	Male infertility, Hypospadias, Hypertelorism, Cryptorchidism, Increased circulating gonadotropin ...	ORPHA:8
49,Xyyyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Micrognathia, Generalized joint laxi...	ORPHA:99330
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Death in infancy,...	ORPHA:1507
Intellectual Developmental Disorder, X-Linked 12	Joint laxity, Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age,...	OMIM:300957
Nephronophthisis 15	Elevated hepatic transaminase, Obesity	OMIM:614845
Idiopathic Copper-Associated Cirrhosis	Hepatic steatosis, Copper accumulation in liver, Cirrhosis	ORPHA:209919
Linear Skin Defects With Multiple Congenital Anomalies 1	Single transverse palmar crease, Anteriorly placed anus, Atrial septal defect, Histiocytoid cardi...	OMIM:309801
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, Nephrocalcinosis, High palate, ...	ORPHA:769
Marshall-Smith Syndrome	Irregular dentition, Large sternal ossification centers, Bilateral cryptorchidism, Distal widenin...	OMIM:602535
Rubinstein-Taybi Syndrome 1	Dental crowding, Single transverse palmar crease, Premature thelarche, Prominent nose, Bilateral ...	OMIM:180849
Bardet-Biedl Syndrome	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Prominent na...	ORPHA:110
Acromesomelic Dysplasia 3	Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ...	OMIM:609441
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cerebellar vermis hypoplasia, Micrognathia, Short palm, Clinodactyly of the 5th finger, Micropeni...	OMIM:620073
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, High, narrow ...	OMIM:613406
Spermatogenic Failure 22	Non-obstructive azoospermia, Male infertility, Cryptozoospermia	OMIM:617706
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Microcephaly, Hydrocephalus, Cortical dysplasia, Abnormality of neuronal migration, Macrocephaly,...	OMIM:618709
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Obesity, Hypogonadism, Retinal coloboma, Microphthalmia	OMIM:601794
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Small for gestational age, Single transverse palmar crease, Short stat...	ORPHA:73272
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Joint laxity, Atrial septal defect, Arachnodactyly, Short stature, Underdeveloped nasal alae, Mic...	OMIM:300986
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, High palate, Atrial septal defect, Long philtrum, Arachn...	ORPHA:505237
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, External genital hypoplasia, Convex nasal ridge, Micrognathia, Gener...	ORPHA:251028
Weaver Syndrome	Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodactyly of finger, Micrognathia, Hypert...	ORPHA:3447
Mmep Syndrome	Mandibular prognathia, Median cleft lip, Ventricular septal defect, Microcephaly, Cryptorchidism,...	ORPHA:3434
2Q31.1 Microdeletion Syndrome	Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Coloboma, Sh...	ORPHA:251014
Cystic Echinococcosis	Multiple pulmonary cysts, Pulmonary cyst, Abnormality of the testis size, Bone cyst, Renal cyst, ...	ORPHA:400
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Anteverted nares, Microc...	OMIM:617062
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Absence of pubertal developme...	OMIM:614837
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Micropenis, Decreased...	OMIM:614841
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Micrognathia, Cleft upper lip, Renal cyst, Cleft palate, ...	OMIM:231060
Fetal Minoxidil Syndrome	Ventricular septal defect, Depressed nasal bridge, Micrognathia, Cryptorchidism, Clinodactyly of ...	ORPHA:1918
Chromosome 17Q12 Deletion Syndrome	Mandibular prognathia, Micrognathia, Renal cyst, High palate, Short palm, Long toe, Multicystic k...	OMIM:614527
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali...	ORPHA:90795
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Prominent nose, High palate, Biparietal narrowing, Short philtrum, Short pal...	ORPHA:85293
Frontoocular Syndrome	Prominent nasal bridge, Micrognathia, Narrow philtrum, Hypotelorism, Proptosis, High palate, Pulm...	OMIM:605321
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Depressed nasal bridge, Anteverted nares, Tracheomalacia, Protruding tongue, Gingival overgrowth,...	OMIM:618797
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619048
Cerebrooculonasal Syndrome	Hypoplasia of penis, Anophthalmia, Hypertelorism, Postaxial hand polydactyly, High palate, Widely...	ORPHA:66625
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Downturned corners of mouth, High palate, Widely spaced teeth, Patent fora...	ORPHA:369891
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Depressed nasal bridge, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Wide nasal brid...	OMIM:615760
Coronary Artery Disease, Autosomal Dominant, 1	Obesity	OMIM:608320
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Dec...	OMIM:619503
Cardiofacioneurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Ventricular septal defect, Microcephaly, Micrognathia, Cryptorchidi...	OMIM:619123
Familial Partial Lipodystrophy, Dunnigan Type	Diabetes mellitus, Dysmenorrhea, Secondary amenorrhea, Polycystic ovaries, Advanced eruption of t...	ORPHA:2348
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Short femur, Ventricular septal defect, Absent septum pellucidum, Bilater...	OMIM:601357
Distal Triplication 15Q	Large for gestational age, Micrognathia, Flexion contracture, High palate, Atrial septal defect, ...	ORPHA:314588
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Abnormal finger morphology, Abnormal lung lobation, Atrial septal defect, Phocomeli...	ORPHA:2538
2Q23.1 Microduplication Syndrome	Thin upper lip vermilion, Broad hallux, Sandal gap, Abnormality of the hand, Prominent nose, Dent...	ORPHA:313947
Spermatogenic Failure 42	Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic...	OMIM:618745
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hypertelorism, Micrognathia, Orbital craniosynostosis, Hydrocephalus, Cerebellar hypoplasia, Dand...	ORPHA:1538
Lambotte Syndrome	Ventricular septal defect, Microcephaly, Hypertelorism, Narrow mouth, Preaxial foot polydactyly, ...	OMIM:245552
Chromosome 5P13 Duplication Syndrome	Small for gestational age, Single transverse palmar crease, Craniosynostosis, Hypertelorism, Long...	OMIM:613174
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Müllerian Aplasia And Hyperandrogenism	Short stature, Obesity, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Short philtru...	ORPHA:247768
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor...	OMIM:614129
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Isochromosomy Yq	Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ...	ORPHA:98798
Intellectual Developmental Disorder, X-Linked 91	Macrodontia, Small hand, Obesity, Short foot, Short 5th finger, High palate, Cubitus valgus, Clin...	OMIM:300577
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue...	OMIM:194080
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Decreased glomerular filtration rate, Pa...	ORPHA:730
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome	OMIM:201910
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Cerebellar vermis hypoplasia, High, narrow palate, Anteriorly placed anus, Deeply set eye, Atrial...	OMIM:618494
Leopard Syndrome 1	Mandibular prognathia, Limited elbow movement, Depressed nasal ridge, Aplasia of the ovary, Micro...	OMIM:151100
Chromosome 14Q11-Q22 Deletion Syndrome	Lateral ventricular asymmetry, Anterior pituitary hypoplasia, Micrognathia, Bilateral cryptorchid...	OMIM:613457
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of penis, Small scrotum, Short stature, Tapered finger, Microcephaly, Cryptorchidism, ...	ORPHA:127
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Short stature, Craniosynostosis, Underdeveloped nasal alae, Micrognathia, Hypertelorism, Hydrocep...	ORPHA:1516
Kbg Syndrome	Thin upper lip vermilion, Vertebral fusion, Anteverted nares, Single transverse palmar crease, Pr...	ORPHA:2332
Alg9-Cdg	Villous atrophy, Micrognathia, Abnormal lung lobation, Right ventricular dilatation, Narrow great...	ORPHA:79328
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Decreased re...	ORPHA:1263
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Joint hyperflexibility, Hypogonadism, Cubitus valgus, Abnormality of t...	ORPHA:1875
Diencephalic Syndrome	Cachexia, Hydrocephalus, Long penis, Large hands, Everted lower lip vermilion, Decreased body wei...	ORPHA:1672
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Increased muscle lipid content	OMIM:610717
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Hypogonadotropic hypogonadism, Short stature, Partial anosmia, Total anosmia, Bilater...	ORPHA:2326
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Single transverse palmar crease, Prominent nose, Mi...	OMIM:305450
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short stature, Basal ganglia...	OMIM:103580
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Developmental And Epileptic Encephalopathy 87	Single transverse palmar crease, Prominent nose, Hypertelorism, Bulbous nose, Cerebral atrophy, H...	OMIM:618916
22Q11.2 Deletion Syndrome	Micrognathia, Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of the thymus, ...	ORPHA:567
Aarskog-Scott Syndrome	Single transverse palmar crease, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodac...	ORPHA:915
Carpenter Syndrome	Finger syndactyly, Syndactyly, Toe syndactyly, External genital hypoplasia, Craniosynostosis, Abn...	ORPHA:65759
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Pparg-Related Familial Partial Lipodystrophy	Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Insulin-resistant diabetes mellitus, Secondar...	ORPHA:79083
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Flexion contracture, High palate, Atrial septal defect, Long philtrum, Short stature, Tapered fin...	OMIM:617452
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, Choanal stenos...	OMIM:218600
Doors Syndrome	Adrenal hyperplasia, Short lingual frenulum, Abnormal finger morphology, Nephrocalcinosis, Downtu...	ORPHA:79500
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Prominent nose, Depressed nasal ridge, Downturned corners of mou...	ORPHA:2378
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch,...	OMIM:616300
Kapur-Toriello Syndrome	Single transverse palmar crease, Atrial septal defect, Micropenis, Pachygyria, Iris coloboma, Bil...	OMIM:244300
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Accelerated atherosclerosis, Diabetes mellitus, Dysmenorrhea, Decreased adiponectin level, Decrea...	ORPHA:280365
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Agyria, Microcephaly, Cortical dysplasia, Subcortical band heterotopia, Gray matter heterotopia, ...	OMIM:615411
Abruzzo-Erickson Syndrome	Toe syndactyly, Hypospadias, Short stature, Cryptorchidism, Coronal hypospadias, Short toe, Cleft...	ORPHA:921
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Decreased response to growth hormone stimulation test, Abnormal hand morphology, Deeply set eye, ...	OMIM:300845
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Truncal obesity	ORPHA:140941
Autosomal Recessive Spondylocostal Dysostosis	Spina bifida occulta, Finger syndactyly, Hypospadias, Anteverted nares, Depressed nasal bridge, S...	ORPHA:2311
Cockayne Syndrome Type 1	Mandibular prognathia, Renal insufficiency, Anophthalmia, Proteinuria, Foot joint contracture, De...	ORPHA:90321
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Deeply set eye, Short palm, ...	OMIM:241410
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, External geni...	ORPHA:96334
X-Linked Intellectual Disability, Nascimento Type	Hypointensity of cerebral white matter on MRI, Hypoplasia of the pons, Deep philtrum, Downturned ...	ORPHA:163956
Microhydranencephaly, X-Linked	Intrauterine growth retardation, Multiple joint contractures, Holoprosencephaly, Microcephaly	OMIM:306990
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:231720
Teebi Hypertelorism Syndrome 1	Dental crowding, Micrognathia, Atrial septal defect, Anteverted nares, Depressed nasal bridge, Sh...	OMIM:145420
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Microcephaly, Flexion contracture, Hypotelorism, Hypoplasia of the corpus callosum, C...	OMIM:619091
Spermatogenic Failure 17	Male infertility	OMIM:617214
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Cardiomegaly	ORPHA:88643
Microcephalic Primordial Dwarfism, Dauber Type	Short stature, Microcephaly, Prominent nose, Abnormal carpal morphology, Madelung deformity, Prim...	ORPHA:319675
Agnathia-Otocephaly Complex	Wide nose, Tracheomalacia, Micrognathia, Secundum atrial septal defect, Situs inversus totalis, A...	OMIM:202650
Phenobarbital Embryopathy	Mandibular prognathia, Hypospadias, Microcephaly, Hypertelorism, Aplasia/Hypoplasia of fingers, A...	ORPHA:1919
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Cortisone Reductase Deficiency 2	Obesity	OMIM:614662
Schinzel-Giedion Syndrome	Micrognathia, Abnormality of the gingiva, Renal cyst, Tibial bowing, Anteriorly placed anus, Choa...	ORPHA:798
Vici Syndrome	Recurrent respiratory infections, Death in infancy, Short stature, Hypertelorism, Hypoplasia of t...	ORPHA:1493
Laron Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Hypoplastic nasal bridge, Aplasia/Hypoplasia invo...	ORPHA:633
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Bicuspid aortic valve, Single transverse palmar crease, Downturned corners of mouth, Coloboma, At...	ORPHA:329224
Spermatogenic Failure 51	Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp...	OMIM:619177
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Short stature, Unilateral renal agenesis, Micrognathia, Ectopic kidney, Cleft upper lip, Abnormal...	OMIM:601076
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Short stature, Abnormality of the thyroid ...	ORPHA:2234
Myoectodermal Gonadal Dysgenesis Syndrome	Single transverse palmar crease, Clitoral hypoplasia, Cutaneous finger syndactyly, Short palm, Ag...	OMIM:618419
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, Failure of eruption of permanent teeth, External genital hypop...	ORPHA:2250
Bilateral Perisylvian Polymicrogyria	Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Choanal atresia, Microcephaly, Microgn...	ORPHA:98889
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Hyperthyroidism, Short stature, Micrognathia, Generalized joint laxity, Primary amenorrhea, Hypot...	ORPHA:502423
Image Syndrome	Metaphyseal dysplasia, Hypospadias, Depressed nasal bridge, Adrenal hypoplasia, Micromelia, Crypt...	ORPHA:85173
Estrogen Resistance Syndrome	Osteopenia, Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of sec...	ORPHA:785
Spermatogenic Failure 79	Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:620196
Body Mass Index Quantitative Trait Locus 20	Obesity, Tall stature	OMIM:618406
Developmental And Epileptic Encephalopathy 100	Recurrent respiratory infections, Tented upper lip vermilion, Depressed nasal bridge, Single tran...	OMIM:619777
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Aplasia/Hypoplasia of t...	ORPHA:2470
Testicular Anomalies With Or Without Congenital Heart Disease	Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge...	OMIM:615542
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Weyers Acrofacial Dysostosis	Conical tooth, Postaxial hand polydactyly, Hypotelorism, Postaxial foot polydactyly, Solitary med...	OMIM:193530
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Retinitis Pigmentosa	Hypoplasia of penis, Anteverted nares, Hyperinsulinemia, Obesity, Wide nasal bridge, Hypogonadism...	ORPHA:791
14Q24.1Q24.3 Microdeletion Syndrome	Joint laxity, Limited elbow extension and supination, Thin upper lip vermilion, Truncus arteriosu...	ORPHA:401935
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function	OMIM:616829
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Broad nasal tip, Hypertelorism, Obesity, Enuresis, Macrocephaly, Ma...	OMIM:613670
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Smooth philtrum, Short stature, Optic nerve hypoplasia, Convex nasal ridge, Microcephaly, Cleft s...	OMIM:619321
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
Roifman Syndrome	Delayed proximal femoral epiphyseal ossification, Downturned corners of mouth, Hippocampal atroph...	ORPHA:353298
Meckel Syndrome 12	Agenesis of cerebellar vermis, Anteverted nares, Rocker bottom foot, Ureteral hypoplasia, Microce...	OMIM:616258
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Short stature, Microcephaly, Micrognathia, Cryptorchidism, Joint stiff...	ORPHA:1166
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Enuresis...	OMIM:615873
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, External genital hypoplasia, Epispadias, High, narrow palate, Abnormal fin...	ORPHA:2658
Microlissencephaly	Thick cerebral cortex, Subcortical heterotopia, Pneumonia, Cerebral dysmyelination, Microcephaly,...	ORPHA:1083
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Absent septum pellucidum, Craniosynostosis, Frontal encephalocele, Hypote...	OMIM:218670
Hernández-Aguirre Negrete Syndrome	Obesity	ORPHA:2139
9q subtelomeric deletion syndrome	Anteverted nares, Protruding tongue, Microcephaly, Abnormal heart morphology, Short nose	DECIPHER:52
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Protruding tongue, Gingival overgrowth, Colpocephaly, Secon...	OMIM:620352
Richieri-Costa/Guion-Almeida Syndrome	Mandibular prognathia, Short stature, Microcephaly, Cleft upper lip, Cleft palate, Hypotelorism, ...	OMIM:268850
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis, Short metatarsal, ...	OMIM:251450
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Failure to thrive, Hepatic failure, Hepatic steatosis	OMIM:617872
Prader-Willi Syndrome Due To Imprinting Mutation	Hypogonadotropic hypogonadism, External genital hypoplasia, Short stature, Narrow palm, Small han...	ORPHA:177910
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Decreased response to growth hormone stimulati...	ORPHA:488632
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short stature, Basal ganglia...	OMIM:612462
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Loss of gluteal subcut...	ORPHA:435651
Bohring-Opitz Syndrome	Micrognathia, Flexion contracture, Hypoplasia of the brainstem, Atrial septal defect, Vesicourete...	OMIM:605039
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test...	ORPHA:363958
Bardet-Biedl Syndrome 22	Large for gestational age, Microcephaly, Obesity, Postaxial foot polydactyly, Polydactyly, Hypogo...	OMIM:617119
Gm1-Gangliosidosis, Type Ii	Thin bony cortex, Coxa valga, Protruding tongue, Joint stiffness, Patent ductus arteriosus, Gingi...	OMIM:230600
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Small scrotum, Hypogon...	OMIM:308700
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Short stature, Dysmenorrhea, Irregular menstruation, Increased body weight, Esophageal varix, Pol...	ORPHA:264580
Frontonasal Dysplasia 1	Hypoplasia of the maxilla, Coloboma, Pectoral muscle hypoplasia/aplasia, Widely-spaced maxillary ...	OMIM:136760
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Bulbous nose, Abnormal heart morphology, Small cerebra...	ORPHA:2185
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Diabetes insipidus, Small for gestational age, Absent septum pellucidum, Micr...	OMIM:618500
Desmosterolosis	Micrognathia, Generalized osteosclerosis, Partial agenesis of the corpus callosum, Ambiguous geni...	OMIM:602398
Ritscher-Schinzel Syndrome 3	Relative macrocephaly, Hypoplasia of the ulna, Thin upper lip vermilion, Cerebellar vermis hypopl...	OMIM:619135
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Bardet-Biedl Syndrome 2	Diabetes mellitus, Bicuspid aortic valve, External genital hypoplasia, Postaxial hand polydactyly...	OMIM:615981
Marden-Walker Syndrome	Micrognathia, High, narrow palate, Hypoplasia of the brainstem, Congenital contracture, High pala...	OMIM:248700
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Obesity, Cerebellar hypoplasia, Hypodontia, Bilateral coxa valga, Intrauterine growth retardation...	OMIM:620270
Bainbridge-Ropers Syndrome	Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge...	OMIM:615485
Craniofacial Dyssynostosis With Short Stature	Hypospadias, Ventricular septal defect, Short stature, Cryptorchidism, Hydrocephalus, Patent duct...	OMIM:218350
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Obesity, Wide mouth, Deeply ...	OMIM:105830
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Abnormal a...	ORPHA:264450
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor...	OMIM:612964
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Sandal gap, Depressed nasal bridge, Supernumerary nipple, Abnormal dental en...	ORPHA:1812
Lipodystrophy, Familial Partial, Type 3	Prominent superficial veins, Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulin...	OMIM:604367
Rhizomelic Limb Shortening With Dysmorphic Features	Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Micrognathi...	OMIM:618821
Down Syndrome	Single transverse palmar crease, Hypoplastic iliac wing, Atrial septal defect, Short palm, Atriov...	OMIM:190685
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Broad nasal tip, Achilles tendon contractur...	OMIM:619719
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Ectopic kidney, Depressed nasal ridge, Abnormal lung lobation, Orofacial c...	OMIM:607872
Ruvalcaba Syndrome	Short metacarpal, Short stature, Dental crowding, Micromelia, Microcephaly, Underdeveloped nasal ...	OMIM:180870
Ovarian Dysgenesis 2	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh...	OMIM:300510
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Obesity	ORPHA:171706
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, S...	ORPHA:93323
Digeorge Syndrome	Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia...	OMIM:188400
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ...	ORPHA:69663
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Hypotelorism, Anterior...	ORPHA:1225
Intellectual Developmental Disorder, Autosomal Dominant 48	Cerebellar vermis hypoplasia, Bicuspid aortic valve, Hypoplasia of the brainstem, Joint laxity, H...	OMIM:617751
Seckel Syndrome 1	Cerebellar vermis hypoplasia, Dental crowding, Abnormal finger flexion crease, Single transverse ...	OMIM:210600
Septopreoptic Holoprosencephaly	Megalencephaly, Precocious puberty, Hypoplasia of the pons, Microcephaly, Perisylvian polymicrogy...	ORPHA:280195
Li-Campeau Syndrome	Ventricular septal defect, Single transverse palmar crease, Short stature, Hypertelorism, Cryptor...	OMIM:619189
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Microcephaly, Broad nasal tip...	ORPHA:480907
Suleiman-El-Hattab Syndrome	Single transverse palmar crease, Downturned corners of mouth, High palate, Atrial septal defect, ...	OMIM:618950
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Truncal obesity, Increased hepatic glycogen content, Large for gestational age	ORPHA:293964
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ...	ORPHA:464738
Galloway-Mowat Syndrome	Short stature, Camptodactyly of finger, Proteinuria, Microcephaly, Aqueductal stenosis, Micrognat...	ORPHA:2065
Cousin Syndrome	Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Deeply set eye, Ambiguous...	OMIM:260660
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Bicuspid aortic valve, Downturned corners of mouth, Coloboma, Oligodontia, High palat...	ORPHA:453499
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Truncal obesity, Childhood-onset truncal obesity	OMIM:610156
13Q12.3 Microdeletion Syndrome	Recurrent respiratory infections, Thin upper lip vermilion, Short stature, Underdeveloped nasal a...	ORPHA:412035
Lipodystrophy, Familial Partial, Type 4	Lipoatrophy, Lipodystrophy, Hepatic steatosis	OMIM:613877
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter h...	OMIM:604213
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Dilated cardiomyopathy, ...	OMIM:253800
Meacham Syndrome	Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Septate vagina, Male pseudohermap...	OMIM:608978
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig...	ORPHA:235
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Anteverted nares, Depressed nasal bridge, Prominent nose, Abno...	ORPHA:2180
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Neonatal hypoglycemia, Cardiomegaly, Cryptorchidi...	OMIM:130650
Ovarian Dysgenesis 7	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:618117
Rere-Related Neurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Hypospadias, Anteverted nares, Choanal atresia, Ventricular septal ...	ORPHA:494344
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Truncal obesity	OMIM:300471
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Depressed nasal bridge, Ventricul...	ORPHA:2256
Filippi Syndrome	Enlarged epiphyses, Short philtrum, Clinodactyly of the 5th finger, Broad columella, Bilateral si...	ORPHA:3255
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Depressed nasal bridge, Ventricular septal defect, Megalencephaly, Abnormal nasal morphology, Hyp...	ORPHA:83473
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosi...	OMIM:615415
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Ulnar-Mammary Syndrome	Hypoplasia of penis, Aplasia of the pectoralis major muscle, Abnormal finger morphology, Abnormal...	ORPHA:3138
Osteoglophonic Dysplasia	Mandibular prognathia, Osteopenia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,...	OMIM:166250
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Micrognathia, Clinodactyly, Anteriorly placed anus, Downturned corners o...	OMIM:616894
Chromosome 2P16.1-P15 Deletion Syndrome	Hypoplasia of the pons, High, narrow palate, Cortical dysplasia, Calcaneovalgus deformity, High p...	OMIM:612513
46,Xy Sex Reversal 4	Distal symphalangism, Hypergonadotropic hypogonadism, Anteverted nares, Prominent nose, Micrognat...	OMIM:154230
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Anteverted nares, Prominent nasal bridge, Abnormal spaced incisors, Broad nasal tip...	ORPHA:411986
Patent Ductus Venosus	Hepatic steatosis, Decreased liver function	OMIM:601466
Fanconi Anemia, Complementation Group B	Death in infancy, Hypergonadotropic hypogonadism, Ventricular septal defect, Optic disc hypoplasi...	OMIM:300514
Thanatophoric Dysplasia	Atrial septal defect, Depressed nasal bridge, Micromelia, Joint stiffness, Abnormal sacroiliac jo...	ORPHA:2655
Prune Belly Syndrome	Congenital hip dislocation, Abnormality of the uterus, Vesicoureteral reflux, Atrial septal defec...	ORPHA:2970
Craniopharyngioma	Enlarged pituitary gland, Cerebral calcification, Hypogonadotropic hypogonadism, Abnormal nasal b...	ORPHA:54595
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Anteverted nares, Depress...	OMIM:616809
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st...	OMIM:615438
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Obesity	ORPHA:329249
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Obesity, Primary ameno...	OMIM:610628
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Anteverted nares, Microcephaly, Precocious puberty, Hypertelorism, Bulbous nose, Cleft upper lip,...	OMIM:300958
Sotos Syndrome	Mandibular prognathia, High, narrow palate, Partial agenesis of the corpus callosum, Increased bo...	OMIM:117550
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Nephrocalcinosis, Clitoral hypoplasia,...	OMIM:268310
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Clinodactyly, Hypotelorism, Downturned corners of mouth, Deeply set eye, Short p...	OMIM:301044
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Silver-Russell Syndrome Due To A Point Mutation	Bifid scrotum, Syndactyly, Relative macrocephaly, Hypospadias, Dysmenorrhea, Small for gestationa...	ORPHA:397590
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cerebral cortical hemiatrophy...	ORPHA:2703
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Distal Deletion 12Q	Single transverse palmar crease, Micrognathia, Ectopic kidney, High, narrow palate, Proportionate...	ORPHA:96149
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Wide nose, Short stature, Hypertelorism, Tapered finger, Obesity, Large hands, Oligodontia, Evert...	ORPHA:276630
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Nasal polyposis, Rectal prolapse, Clubbing, Abnormality of the ureter, ...	OMIM:175200
Holoprosencephaly 11	Microcephaly, Cleft lip, Cleft palate, Hypotelorism, Proptosis, Holoprosencephaly, Agenesis of co...	OMIM:614226
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Anteverted nares, Tapered finger, Broad nasal tip, Cryptorchidism, Hypertelorism, Recurrent upper...	ORPHA:589905
Cerebrofacioarticular Syndrome	Osteopenia, Irregular dentition, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the ma...	ORPHA:314679
Clark-Baraitser Syndrome	Smooth philtrum, Thin upper lip vermilion, Sandal gap, Anteverted nares, Depressed nasal bridge, ...	OMIM:617752
Amed Syndrome, Digenic	Short stature, Adrenal hypoplasia, Microcephaly, Hypoplasia of the uterus, Long thumb, Failure to...	OMIM:619151
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Micrognathia, Deep philtrum, Downturned corners of mouth, Abnormal thalamus morphology, Bifid uvu...	ORPHA:404440
Rafiq Syndrome	Joint laxity, Thin upper lip vermilion, Wide nose, Short stature, Joint hypermobility, Prominent ...	OMIM:614202
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Ectopic kidney, Rectal prolapse, Conical incisor, Oligodontia,...	OMIM:235510
Autosomal Recessive Spastic Paraplegia Type 46	Urinary incontinence, Corpus callosum atrophy, Cerebral atrophy, Abnormal cerebral white matter m...	ORPHA:320391
Lipodystrophy, Familial Partial, Type 6	Abdominal obesity, Lipodystrophy, Hepatic steatosis	OMIM:615980
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Congenital hip dislocation, Clinodactyly of the 5th finger, Broad columella, Finge...	ORPHA:217346
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Deeply set eye, Short philtrum, Hypoplastic ili...	OMIM:139210
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent...	OMIM:618805
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Clinodactyly, Oligodontia, Micropenis, Calvarial osteosclerosis, L...	OMIM:616331
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Bilateral cryptorchidism, Patent...	OMIM:618652
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog...	OMIM:308750
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Renal cyst, High palate, Premature loss of teet...	OMIM:102500
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Small for gestational age, Depressed nasal bridge, Hypospadias, Short statur...	OMIM:300661
19P13.3 Microduplication Syndrome	Unilateral cryptorchidism, Ventricular septal defect, Microcephaly, Precocious puberty, Long fing...	ORPHA:447980
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Renal cyst, Deeply set eye, Micropenis, Pelvic kidney, Hypospadias, Tapered finger, Cryptorchidis...	ORPHA:464311
Anophthalmia Plus Syndrome	Anophthalmia, Choanal atresia, Spina bifida, Hypertelorism, Abnormal nasal morphology, Non-midlin...	ORPHA:1104
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodact...	OMIM:210720
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, Neonatal insulin-dependent ...	ORPHA:556955
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Single transverse palmar crease, Renal cyst, Orofacial cleft, Finge...	ORPHA:1692
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Relative macrocephaly, Failure to thrive, Cerebral white matter atrophy, Periventricular leukomal...	ORPHA:500055
Megalencephaly, Autosomal Dominant	Macrocephaly, Hydrocephalus, Megalencephaly	OMIM:155350
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Mandibular prognathia, Limitation of movement at ankles, Protruding tongue, Cessation of head gro...	ORPHA:98794
Ovarian Dysgenesis 5	Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of ...	OMIM:617690
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Anosmia, Primary amenorrh...	OMIM:618841
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Palmar pits, Cardiac fibroma, Iris coloboma, Vertebral fusion, Odontogenic...	OMIM:109400
Chromosome 15Q11.2 Deletion Syndrome	Smooth philtrum, Irregular dentition, Swan neck-like deformities of the fingers, Arachnodactyly, ...	OMIM:615656
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, Encephalocel...	OMIM:108720
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
8P Inverted Duplication/Deletion Syndrome	Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the gallbladder, Clinodactyly of the 5th...	ORPHA:96092
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Broad skull, Intracranial hemorrhage, Short philtrum, At...	ORPHA:163979
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Cerebral calcification, Limitation of joint mobility, Macrocephaly	ORPHA:99966
Hydrolethalus Syndrome 1	Micrognathia, Abnormal lung lobation, Severe hydrocephalus, Agenesis of corpus callosum, Dandy-Wa...	OMIM:236680
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti...	OMIM:610475
Premature Ovarian Failure 6	Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi...	OMIM:612310
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Thin upper lip vermilion, Tapered finger, Microcephaly, Hypertelorism, Obesity, Wide nasal bridge...	ORPHA:352530
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ...	ORPHA:209902
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Protruding tongue, Cessation of head growth, Obesity, Mild microcephaly, W...	ORPHA:411511
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, Ectopic k...	OMIM:122470
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Patent ductus arteriosus, Hypotel...	ORPHA:1952
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Microcephaly, Flexion contracture, Hypotelorism, Secondary microcephaly, High palate, Hypoplasia ...	OMIM:616281
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Obesity	OMIM:184700
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Deeply set e...	OMIM:300534
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, Coloboma, High palate, Shallow orbits, P...	OMIM:268300
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Micrognathia, Cryptor...	OMIM:619326
Congenital Factor Vii Deficiency	Epistaxis, Intracranial hemorrhage, Ovarian cyst, Menorrhagia, Gingival bleeding, Joint hemorrhage	ORPHA:327
Acquired Partial Lipodystrophy	Lipoatrophy, Hepatic steatosis	ORPHA:79087
Craniosynostosis 4	Ectopic posterior pituitary, Depressed nasal bridge, Optic nerve hypoplasia, Sagittal craniosynos...	OMIM:600775
Sanjad-Sakati Syndrome	Hypoplasia of penis, Micrognathia, Deeply set eye, Congenital hypoparathyroidism, Hypoparathyroid...	ORPHA:2323
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Septo-optic dysplasia, Diabetes insipidus, Anterior pituitary hypoplasia, Ma...	ORPHA:3157
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Dec...	ORPHA:955
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Short stature, Microcephaly, Hypoplasia of the pons, Prominent nose, Partial agenesis of the corp...	OMIM:616171
Miller-Dieker Lissencephaly Syndrome	Single transverse palmar crease, Micrognathia, Clinodactyly of the 5th finger, Cavum septum pellu...	OMIM:247200
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Dextrocardia, Supernumerary nipple, Hypertelori...	OMIM:618929
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec...	OMIM:314390
Estrogen Resistance	Increased circulating osteocalcin level, Osteopenia, Hyperinsulinemia, Increased serum estradiol,...	OMIM:615363
Microcephaly 20, Primary, Autosomal Recessive	Short stature, Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly...	OMIM:617914
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Abnormal tricuspid valve morphology, High palate, Widely spaced teeth,...	ORPHA:192
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Toe syndactyly, Hypospadias, Short hallux, Supernumerary nipple, Abnormal nasa...	ORPHA:3224
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Verheij Syndrome	Branchial cyst, Renal cyst, Coloboma, Joint laxity, Vertebral fusion, Anteverted nares, Short sta...	OMIM:615583
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Aqueductal stenosis, Hypoplasia of first ribs, Foo...	OMIM:154400
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Short stature, Abnormality of the philtrum, Microcephaly, Abnormality of the d...	ORPHA:3268
Jacobsen Syndrome	Death in infancy, Pachygyria, Agenesis of corpus callosum, Long hallux, Broad columella, Iris col...	ORPHA:2308
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Lipodystrophy, Hepatic steatosis, Increased intraabdominal fat	ORPHA:79085
Van Maldergem Syndrome 2	Bifid scrotum, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Osteopen...	OMIM:615546
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic ...	OMIM:263200
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Optic nerve hypoplasia, Type II lissencephaly,...	ORPHA:370959
Pontocerebellar Hypoplasia, Type 7	Single transverse palmar crease, Broad nasal tip, Hypoplasia of the pons, Cryptorchidism, Hydroce...	OMIM:614969
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Cerebellar vermis hypoplasia, Micrognathia, Femoral bowing, Abnormal should...	OMIM:274000
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, High palate, Shallow o...	OMIM:182212
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Hypertelorism, Preaxia...	ORPHA:380
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Short stature, Dysmenorrhea, Postnatal growth retardation, Irregular menstruation, Increased body...	ORPHA:79240
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Tented upper lip vermilion, Micrognathia, Deep philtrum, High palate, Depressed nasal bridge, Sho...	OMIM:619833
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Decreased response to growt...	OMIM:614732
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Pachygyria, Hydroce...	OMIM:613153
Smith-Kingsmore Syndrome	Reduced cerebral white matter volume, Large for gestational age, Rhizomelia, Depressed nasal brid...	OMIM:616638
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Tented upper lip vermilion, Singl...	OMIM:229850
Chromosome 10Q26 Deletion Syndrome	Congenital hip dislocation, Small scrotum, Single transverse palmar crease, Prominent nose, Micro...	OMIM:609625
Lissencephaly 3	Cerebellar vermis hypoplasia, Agyria, Periventricular laminar heterotopia, Microcephaly, Gray mat...	OMIM:611603
Femoral-Facial Syndrome	Maternal diabetes, Micrognathia, Coxa vara, Orofacial cleft, Aplasia/Hypoplasia of the tibia, Sho...	ORPHA:1988
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Long nose, Mild microcephaly, Deeply set eye, Atrial septal defect, Micropenis, Thick upper lip v...	ORPHA:363444
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Small scrotum, Micrognathia, Symphalangism affecting the phalanges of the ha...	ORPHA:2990
Acrocardiofacial Syndrome	Hypoplasia of penis, Atrial septal defect, Finger syndactyly, Death in infancy, Hyperthyroidism, ...	ORPHA:2008
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Ag...	ORPHA:87
11Q22.2Q22.3 Microdeletion Syndrome	Thin upper lip vermilion, Bilateral single transverse palmar creases, Depressed nasal bridge, Mic...	ORPHA:444002
Craniofrontonasal Dysplasia	Depressed nasal ridge, Orofacial cleft, High palate, Clinodactyly of the 5th finger, Finger synda...	ORPHA:1520
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Enlarged sylvian cistern, Gray matter heterotopia, Pachygyria, Agyria, Ventriculomegaly	ORPHA:1084
Cardiac-Urogenital Syndrome	Bifid scrotum, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Pe...	OMIM:618280
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	OMIM:300998
Slc35A2-Cdg	Osteopenia, Cerebral white matter atrophy, Cortical dysplasia, Elevated circulating thyroid-stimu...	ORPHA:356961
Insulin-Like Growth Factor I, Resistance To	Micrognathia, Deeply set eye, High palate, Atrial septal defect, Decreased body weight, Patent fo...	OMIM:270450
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Hypospadias, Hypertelorism, Hypoplasia of the maxilla, Cryp...	OMIM:601499
2Q37 Microdeletion Syndrome	Downturned corners of mouth, Deeply set eye, Short palm, Clinodactyly of the 5th finger, Broad co...	ORPHA:1001
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Dental crowding, Micrognathia, Coloboma, High palate, Atrial septal defect...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Dental crowding, Micrognathia, Coloboma, High palate, Atrial septal defect...	ORPHA:353277
Bardet-Biedl Syndrome 1	Dental crowding, High, narrow palate, High palate, Micropenis, Syndactyly, Nephrogenic diabetes i...	OMIM:209900
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned...	ORPHA:352665
Wiedemann-Steiner Syndrome	Micrognathia, High palate, Atrial septal defect, Clinodactyly of the 5th finger, Short phalanx of...	OMIM:605130
Dpm1-Cdg	Smooth philtrum, Tented upper lip vermilion, Sandal gap, External genital hypoplasia, Depressed n...	ORPHA:79322
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, H...	OMIM:617967
Joubert Syndrome 14	Cerebellar vermis hypoplasia, Tented upper lip vermilion, Renal cyst, Intracranial hemorrhage, Co...	OMIM:614424
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Proteus Syndrome	Neoplasm of the thymus, Abnormal finger morphology, Abnormal lung lobation, Renal cyst, Chorioret...	ORPHA:744
Fryns Syndrome	Tented upper lip vermilion, Micrognathia, Abnormal aortic arch morphology, High palate, Vesicoure...	ORPHA:2059
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Long nose, Downturned corners of mouth, Deeply set eye, High palate, Atrial sept...	OMIM:617602
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Omphalocele-Cleft Palate Syndrome, Lethal	Death in infancy, Hydrocephalus, Cleft palate, Bicornuate uterus, Bifid uvula	OMIM:258320
Pyruvate Dehydrogenase E1-Alpha Deficiency	Single transverse palmar crease, Partial agenesis of the corpus callosum, Flexion contracture, Ab...	ORPHA:79243
Intellectual Developmental Disorder, Autosomal Dominant 47	Joint laxity, Small for gestational age, Prominent nasal bridge, Supernumerary nipple, Microcepha...	OMIM:617635
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Microduplication Xp11.22P11.23 Syndrome	Obesity	ORPHA:217377
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Enlarged epiphyses, Proximal placement of thumb, Flexion contracture, Coxa vara, Hypoplastic ilia...	OMIM:613330
White-Kernohan Syndrome	Joint laxity, Thin upper lip vermilion, Hydroureter, Anteverted nares, Depressed nasal bridge, Te...	OMIM:619426
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Osteopenia, Hypergonadotropic ...	ORPHA:91
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent...	ORPHA:1350
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Recurrent respiratory infections, Postaxial polydactyly, Cryptorchidism, Obesity, Nephrocalcinosi...	OMIM:615633
Tetrasomy 9P	Dental crowding, Micrognathia, Downturned corners of mouth, Deeply set eye, High palate, Short ph...	ORPHA:3310
Zellweger Syndrome	Micrognathia, High palate, Death in infancy, Multicystic kidney dysplasia, Hypospadias, Depressed...	ORPHA:912
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Microcephaly, Periventricular heterotopia, Hypoplasia of the corpus callosum, Periventricular nod...	OMIM:608097
Gómez-López-Hernández Syndrome	Cerebellar vermis hypoplasia, Anteverted nares, Short stature, Hypertelorism, Hydrocephalus, Thin...	ORPHA:1532
Orotic Aciduria	Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res...	OMIM:258900
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Renal c...	OMIM:113620
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, Microphthalmia	ORPHA:363741
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, Prominent nose, Cardiomegaly, High, narrow palate, Pineal cyst, Increased head c...	OMIM:300967
Three M Syndrome 1	Mandibular prognathia, Clinodactyly of the 5th finger, Spina bifida occulta, Scapular winging, Hy...	OMIM:273750
Craniofacial Conodysplasia	Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand	ORPHA:85168
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Syndactyly, Toe syndactyly, Anteverted nares, Intestinal malrotation, Hypertelorism, Decreased sk...	OMIM:601163
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Hypoglycemia, Nonketoti...	OMIM:608836
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uteru...	OMIM:194072
Double Outlet Right Ventricle	Hypoparathyroidism, Depressed nasal bridge, Ventricular septal defect, Short stature, Hypertelori...	ORPHA:3426
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Proximal placement of thumb, Micrognathia, Anteriorly placed anus, Downturned corners of mouth, S...	OMIM:217980
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Loss of gluteal subcut...	ORPHA:435660
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho...	ORPHA:399808
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis	OMIM:618234
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le...	ORPHA:90791
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Micrognathia, Depressed nasal ridge, Deeply set eye, High palate, Bipariet...	ORPHA:261337
Pseudohypoparathyroidism Type 1C	Cerebral calcification, Decreased response to growth hormone stimulation test, Reduced circulatin...	ORPHA:79444
Satoyoshi Syndrome	Short metacarpal, Brachydactyly, Short stature, Malabsorption, Short metatarsal, Osteolytic defec...	OMIM:600705
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Oral ulcer, Gingivitis, Nephrocalcinosis, Inflammation of the large intestine, Period...	ORPHA:79259
Spermatogenic Failure 24	Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce...	OMIM:617959
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Prominent nose, Mi...	OMIM:612474
Lateral Meningocele Syndrome	Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Vertebral fusion, Short statur...	OMIM:130720
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Lipodystrophy, Hepatic steatosis	OMIM:615238
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Monosomy 5P	Microretrognathia, Finger syndactyly, Short stature, Recurrent fractures, Microcephaly, Hypertelo...	ORPHA:281
Maternal Phenylketonuria	Micrognathia, Hypotelorism, High palate, Bladder exstrophy, Anteverted nares, Esophageal atresia,...	ORPHA:2209
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Bifid scrotum, Anteverted nares, Depressed nasal bridge, Choanal atresia, Hypertelorism, Palmopla...	ORPHA:1555
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Dental crowding, Knee flexion contracture, Deeply set eye, Hypoplasia of t...	OMIM:193700
Chromosome 17P13.1 Deletion Syndrome	Diffuse cerebral atrophy, Proximal placement of thumb, High, narrow palate, Knee flexion contract...	OMIM:613776
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Severe short stature, Micromelia, Microcephaly...	OMIM:224410
Campomelic Dysplasia	Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Depre...	OMIM:114290
Chromosome 16Q22 Deletion Syndrome	Broad hallux, Hypospadias, Single transverse palmar crease, Small for gestational age, Microcepha...	OMIM:614541
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele, Aortic aneurysm	ORPHA:261102
Attrv30M Amyloidosis	Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly	ORPHA:85447
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Atrial septal defect, M...	ORPHA:289
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ...	ORPHA:261211
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Joint stiffness, Long fingers, Hydrocephalus, Ab...	ORPHA:1895
Seckel Syndrome 5	11 pairs of ribs, Hypospadias, Abnormal cortical gyration, Prominent nasal bridge, Microcephaly, ...	OMIM:613823
10Q22.3Q23.3 Microdeletion Syndrome	Microretrognathia, Curved middle phalanx of the 4th toe, Intestinal polyposis, Arachnodactyly, An...	ORPHA:276413
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep...	OMIM:264470
Myopathy, Centronuclear, X-Linked	Arachnodactyly, Cryptorchidism, Hydrocephalus, Birth length greater than 97th percentile, Dental ...	OMIM:310400
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Short stature, Hypertelorism, Delayed epiphyseal ossification, Wide nasal bridge, Cerebral atroph...	ORPHA:166024
Aicardi Syndrome	Cerebellar vermis hypoplasia, Proximal placement of thumb, Partial agenesis of the corpus callosu...	OMIM:304050
Mend Syndrome	Micrognathia, High palate, Abnormal nasal bridge morphology, Dandy-Walker malformation, Broad hal...	ORPHA:401973
Spermatogenic Failure 81	Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R...	OMIM:620277
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Proximal placement of thumb, Micrognathia, Downturned corners of...	ORPHA:199
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Single transverse palmar crease, High palate, Short philtrum, Atrial ...	OMIM:616449
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia, Metaphyseal widening, D...	OMIM:255800
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Dental crowding, Decreased response to growth hormone stimulation test, Micrognathia, High, narro...	ORPHA:96182
1P36 Deletion Syndrome	Hypoplasia of penis, Depressed nasal ridge, Renal cyst, Deeply set eye, Clinodactyly of the 5th f...	ORPHA:1606
Momo Syndrome	Large for gestational age, Femoral bowing, High palate, Chorioretinal coloboma, Abnormal bone oss...	ORPHA:2563
11P15.4 Microduplication Syndrome	Obesity	ORPHA:300305
Cohen Syndrome	Single transverse palmar crease, Decreased response to growth hormone stimulation test, Micrognat...	OMIM:216550
Sifrim-Hitz-Weiss Syndrome	Anteriorly placed anus, Atrial septal defect, Vesicoureteral reflux, Micropenis, Bifid uvula, Hyp...	OMIM:617159
Distal Duplication 5Q	Micrognathia, Aplasia/Hypoplasia of the gallbladder, Chorioretinal coloboma, Hypoplasia of the ul...	ORPHA:96097
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Microcephaly, Micrognathia, Flexion contracture, Small hand, Obesity, High palate, Macroorchidism...	OMIM:300055
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Polyuri...	OMIM:615994
Coffin-Siris Syndrome	Clinodactyly, Simplified gyral pattern, Papillary thyroid carcinoma, Aspiration pneumonia, Atrial...	ORPHA:1465
Webb-Dattani Syndrome	Neurogenic bladder, Short stature, Decreased response to growth hormone stimulation test, Anterio...	OMIM:615926
Microtriplication 11Q24.1	Wide nose, Short stature, Microcephaly, Metatarsus adductus, Hypertelorism, Limitation of joint m...	ORPHA:289522
Histiocytoid Cardiomyopathy	Ventricular septal defect, Cardiomegaly, Hydrocephalus, Renal cyst, Polycystic ovaries, Stroke-li...	ORPHA:137675
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Wide nose, Cerebral calcification, Rocker bottom foot, 4-layered lissencephaly...	ORPHA:89844
Williams-Beuren Syndrome	Osteopenia, Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Hypotelorism, Nephrocalc...	OMIM:194050
Short Chain Acyl-Coa Dehydrogenase Deficiency	Failure to thrive, Hepatic steatosis	ORPHA:26792
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Cerebral cortical atrophy, Holoprosencephaly, Microcephaly	ORPHA:2523
Vitamin K Antagonist Embryofetopathy	Anteverted nares, Depressed nasal bridge, Choanal atresia, Hypertelorism, Myelomeningocele, Hydro...	ORPHA:1914
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Poikilocytosis, Prolonged ne...	OMIM:300908
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Pituicytoma	Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr...	ORPHA:251623
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Metatropic Dysplasia	Severe short stature, Depressed nasal bridge, Camptodactyly of finger, Micromelia, Abnormal encho...	ORPHA:2635
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Micrognathia, Coloboma, Hypoplasia of the brainstem, Congenital contract...	OMIM:236670
Chops Syndrome	High, narrow palate, Downturned corners of mouth, Aspiration pneumonia, Vesicoureteral reflux, Pa...	OMIM:616368
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormally large globe, Micrognathia, High palate, Abnormality of the uterus, Protein-losing ente...	ORPHA:1655
Beare-Stevenson Cutis Gyrata Syndrome	Bifid scrotum, Anteriorly placed anus, Choanal stenosis, High palate, Agenesis of corpus callosum...	OMIM:123790
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Situs inversus totalis, Splenomegaly, Pan...	OMIM:208540
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim...	OMIM:617565
Bardet-Biedl Syndrome 8	Hypospadias, Postaxial polydactyly, Situs inversus totalis, Obesity, Hypogonadism	OMIM:615985
Ddost-Cdg	Elevated hepatic transaminase, Lipodystrophy, Failure to thrive, Hepatic steatosis	ORPHA:300536
Mirage Syndrome	Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Rocker bottom foot, Short statur...	OMIM:617053
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Microc...	ORPHA:3121
Steinfeld Syndrome	Absent gallbladder, Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypopl...	OMIM:184705
Frank-Ter Haar Syndrome	Osteopenia, Abnormally large globe, Secundum atrial septal defect, Micrognathia, High palate, Sho...	OMIM:249420
Silver-Russell Syndrome 3	Relative macrocephaly, Syndactyly, Unilateral cryptorchidism, Small for gestational age, Short st...	OMIM:616489
Cri-Du-Chat Syndrome	Single transverse palmar crease, Short metatarsal, Orofacial cleft, Downturned corners of mouth, ...	OMIM:123450
Amyotrophy, Hereditary Neuralgic	Depressed nasal bridge, Short stature, Narrow mouth, Cleft palate, Hypotelorism, Deeply set eye, ...	OMIM:162100
H Syndrome	Micropenis, Short stature, Cleft upper lip, Recurrent pharyngitis, Bronchiectasis, Gingival overg...	ORPHA:168569
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Microcephaly, Precocious puberty, Micrognathia, Narrow mouth, Open mouth, Delay...	OMIM:619356
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Generalized joint laxity, Coloboma, H...	ORPHA:508498
Orofaciodigital Syndrome Xvii	Median cleft lip, Short stature, Prominent nose, Short middle phalanx of the 2nd finger, High, na...	OMIM:617926
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Microcephaly, Protruding tongue, Extra-axial cerebrospinal fluid accumulation, Hand clenching, Th...	OMIM:619580
Hydranencephaly	Ventriculomegaly, Stiff neck, Optic nerve hypoplasia, Antenatal intracerebral hemorrhage, Abnorma...	ORPHA:2177
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Flexion contracture, Femoral bowing, Choanal stenosis, Atrial septal defect, Arachnodactyly, Depr...	OMIM:207410
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, Hypospadias, Precocious puberty, 2-3 toe syndactyly, Coloboma, Macrocep...	OMIM:615877
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Craniosynostosis, Postnatal growth retardation, Cryptorchidism, Abnormal tongue...	ORPHA:531151
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Uveitis, Buphthalmos, Microcornea, Shallow anterior chambe...	OMIM:221900
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu...	OMIM:602418
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Depressed nasal bridge, Hypertelorism, Cryptorchidism, Bulbous nose, Wide mouth, Coloboma, Macrog...	OMIM:616789
Silver-Russell Syndrome 1	Syndactyly, Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, S...	OMIM:180860
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:403
Fetal Akinesia Deformation Sequence 1	Elbow contracture, Micrognathia, High, narrow palate, Congenital contracture, High palate, Cavum ...	OMIM:208150
Braddock Syndrome	Short stature, Unilateral renal agenesis, Micrognathia, Missing ribs, Preaxial hand polydactyly, ...	ORPHA:52047
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Crane-Heise Syndrome	Finger syndactyly, Hypoplasia of penis, Hypoplastic scapulae, Toe syndactyly, Anteverted nares, A...	ORPHA:1512
14Q11.2 Microdeletion Syndrome	Toe syndactyly, Depressed nasal bridge, Ventricular septal defect, Exaggerated cupid's bow, Micro...	ORPHA:261120
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect, Cryptorchidism, Lateral ventricle dilatation, Hypoplasia of the corpus...	OMIM:616816
Ovarian Dysgenesis 6	Primary amenorrhea, Hypergonadotropic hypogonadism, Absence of pubertal development, Hypoplasia o...	OMIM:618078
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Ventricular septal ...	OMIM:618067
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism, Bulbous nose, Thick lower lip vermilion, Obesity	OMIM:300238
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Hypospadias, Short stature, Microcephaly, Bifid nasal tip, Polymicrogyr...	OMIM:618874
Glutathionuria	Urinary incontinence, Hypotelorism, Gray matter heterotopia, Agenesis of corpus callosum, Glutath...	OMIM:231950
Warburg Micro Syndrome 3	Small scrotum, Microcephaly, Micrognathia, Postnatal growth retardation, Hypoplastic labia minora...	OMIM:614222
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism	OMIM:261550
Fowler Urethral Sphincter Dysfunction Syndrome	Urinary incontinence, Dysuria, Abnormality of the urethra, Polycystic ovaries, Menorrhagia, Oligo...	ORPHA:2795
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Vacterl/Vater Association	Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Ectopic kidney, Abnormality of the u...	ORPHA:887
Axial Mesodermal Dysplasia Spectrum	Short stature, Missing ribs, Micrognathia, Hypertelorism, Hydrocephalus, Abnormal rib morphology,...	ORPHA:1834
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperextensibility of the finger joints, Dental crowding, Micrognathia, Long nose, Hypoplasia of ...	OMIM:309520
Pycnodysostosis	Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Prominent nose, ...	ORPHA:763
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Brachydactyly, Hypospadias, Short stature, Microcephaly, Ca...	ORPHA:1786
Basilicata-Akhtar Syndrome	Short palm, Smooth philtrum, Tented upper lip vermilion, Anteverted nares, Single transverse palm...	OMIM:301032
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow pa...	ORPHA:2462
Ovarian Dysgenesis 10	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:619834
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Depressed nasal bridge, Female infertility, Increased circulatin...	OMIM:110100
Masa Syndrome	Short stature, Microcephaly, Hydrocephalus, Talipes equinovarus, Macrocephaly, Agenesis of corpus...	OMIM:303350
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Osteopenia, Congenital hip dislocation, Decreased response to growth hormo...	OMIM:616007
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Death in infancy, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Secondary microcepha...	OMIM:613730
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea...	ORPHA:1916
Woodhouse-Sakati Syndrome	Osteopenia, Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone s...	ORPHA:3464
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short stature, Short metatar...	OMIM:612463
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Meckel diverticulum, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Thick nasal ala...	ORPHA:163961
Intellectual Developmental Disorder, Autosomal Recessive 79	Thin upper lip vermilion, Ventricular septal defect, Short hallux, Broad nasal tip, Long fingers,...	OMIM:620393
Goldberg-Shprintzen Megacolon Syndrome	Bifid scrotum, Finger syndactyly, Hypospadias, Short stature, Aganglionic megacolon, Microcephaly...	ORPHA:66629
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Hypert...	OMIM:300244
Summitt Syndrome	Finger syndactyly, Wide nose, Camptodactyly of finger, Craniosynostosis, Hypertelorism, Depressed...	ORPHA:3210
Ogden Syndrome	Microretrognathia, Everted upper lip vermilion, Broad hallux, Ventricular septal defect, Underdev...	ORPHA:276432
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Hypoplasia of penis, Ventricular septal defect, Aganglionic megacolon, Microcep...	ORPHA:452
Intellectual Developmental Disorder, X-Linked 30	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Short stature, Microcephaly, ...	OMIM:300558
Gm1 Gangliosidosis	Mandibular prognathia, Depressed nasal ridge, Encephalomalacia, Aspiration pneumonia, Cherry red ...	ORPHA:354
German Syndrome	Depressed nasal bridge, Camptodactyly of finger, Short stature, Micrognathia, Cryptorchidism, Lim...	ORPHA:2077
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Anteverted nares, Single transverse palmar crease, Depressed nasa...	OMIM:619743
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Single transverse palmar crease, Micromelia, Finger joint hypermobility, Atrial septal defect, Pa...	OMIM:618870
Norrie Disease	Venous insufficiency, Hypotelorism, Hypoplasia of the iris, Deeply set eye, Uterine rupture, Apla...	ORPHA:649
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Pseudohypoparathyroidism Type 1A	Cerebral calcification, Decreased response to growth hormone stimulation test, Reduced circulatin...	ORPHA:79443
Chromosome 19Q13.11 Deletion Syndrome, Distal	Bifid scrotum, Micrognathia, Cutaneous finger syndactyly, Short philtrum, Clinodactyly of the 5th...	OMIM:613026
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn...	ORPHA:139507
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Deeply set eye, Hypop...	ORPHA:268261
Aymé-Gripp Syndrome	Oligodontia, Shallow orbits, Clinodactyly of the 5th finger, Depressed nasal bridge, Short statur...	ORPHA:1272
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp...	ORPHA:98870
15Q11Q13 Microduplication Syndrome	Finger syndactyly, Short stature, Joint hyperflexibility, Macrocephaly, Clinodactyly of the 5th f...	ORPHA:238446
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars...	OMIM:609945
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Anterior pituitary hypoplasia, Renal cyst, Deeply set eye, Hypoplasi...	ORPHA:464306
Fetal Trimethadione Syndrome	Atrial septal defect, Depressed nasal bridge, Hypospadias, Ventricular septal defect, Microcephal...	ORPHA:1913
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Mandibular prognathia, Finger syndactyly, Branchial cyst, Thin upper lip vermilion, Hypospadias, ...	ORPHA:435938
Ciliary Dyskinesia, Primary, 50	Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Chroni...	OMIM:620356
Holoprosencephaly-Craniosynostosis Syndrome	Short stature, Craniosynostosis, Coxa valga, Microcephaly, Hypotelorism, Hypoplastic vertebral bo...	ORPHA:2163
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Anteverted nares, Depressed nasal bridge, Wide nose, B...	OMIM:600430
Infantile Sialic Acid Storage Disease	Osteopenia, Anteverted nares, Cardiomegaly, Hydrocephalus, Gingival overgrowth, Cerebral atrophy,...	OMIM:269920
Treacher-Collins Syndrome	Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Hypopl...	ORPHA:861
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Micromelia, Anteverted nares, Short stature, Abnormality of the urete...	ORPHA:1035
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Cortisone Reductase Deficiency 1	Precocious puberty, Obesity, Infertility, Oligomenorrhea	OMIM:604931
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardi...	OMIM:235200
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Protruding tongue, Cessation of head growth, Wide mouth, Secondary microce...	ORPHA:98795
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Microcephaly, Tapered finger, Broad nasal tip, ...	OMIM:619680
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Micrognathia, Porencephalic cyst, Tibial bowing, Lobulated tongue, ...	OMIM:277170
Trisomy 8Q	Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Hypertelorism, Cryptorchidism, Myelom...	ORPHA:1752
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Hypotelorism, Clinodactyly of the 5th finger, Bifid uvula, Iris coloboma, ...	OMIM:181270
Donnai-Barrow Syndrome	Depressed nasal bridge, Ventricular septal defect, Proteinuria, Hypertelorism, Intestinal malrota...	ORPHA:2143
Frasier Syndrome	Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, Increased circula...	ORPHA:347
Acromelic Frontonasal Dysplasia	Anterior pituitary hypoplasia, Patellar hypoplasia, Thick nasal alae, Aplasia/Hypoplasia of the t...	ORPHA:1827
Cranioectodermal Dysplasia 1	Bicuspid aortic valve, Single transverse palmar crease, High, narrow palate, Hypotelorism, Tubulo...	OMIM:218330
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Choanal atresia, Short stature, Cleft upper lip, Crypt...	OMIM:147950
Monosomy 9Q22.3	Delayed eruption of teeth, Tall stature, Ovarian fibroma, Odontogenic keratocysts of the jaw, Lar...	ORPHA:77301
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Micrognathia, Crowded maxillary incisors, Cryptorchidism, Abnormal lung lobation, Abnormal femur ...	ORPHA:2063
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg...	OMIM:618278
King-Denborough Syndrome	Ventricular septal defect, Short stature, Broad nasal tip, Bilateral cryptorchidism, Cryptorchidi...	OMIM:619542
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Short stature, Single transverse palmar crease, Decreased response to growth hormone stimulation ...	ORPHA:457240
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, High palate, Amelogenesis imperfecta, Microretrognathia, Sho...	OMIM:618363
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Sandal gap, Short stature, Tapered finger, Microcephaly, Hypertelorism, Cleft lip, Narrow mouth, ...	OMIM:618089
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Anophthalmia, Camptodactyly of finger, Hypoplasia of the maxilla, Cryptorc...	ORPHA:1101
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Halperin-Birk Syndrome	Micrognathia, Flexion contracture, Hip dislocation, Colpocephaly, Perimembranous ventricular sept...	OMIM:618651
Pagod Syndrome	Pulmonary artery hypoplasia, Abnormality of the uterus, Abnormality of the pulmonary artery, Ence...	ORPHA:991
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the anterior chamber, Atrial sep...	OMIM:602482
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Micrognathia, Orofacial cleft, High pala...	ORPHA:221120
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Abnormal mitral valve morp...	ORPHA:1277
22Q11.2 Duplication Syndrome	Wide nose, Ventricular septal defect, Microcephaly, Micrognathia, Hypertelorism, Urethral stenosi...	ORPHA:1727
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans...	OMIM:278000
Adams-Oliver Syndrome 2	Depressed nasal bridge, Single transverse palmar crease, Microcephaly, Micrognathia, Hyperteloris...	OMIM:614219
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Abnormality of the pineal gland, Abnormal dental morphology, Micrognat...	ORPHA:369950
Macrocephaly/Autism Syndrome	Joint laxity, Dilation of Virchow-Robin spaces, Depressed nasal bridge, Penile freckling, Large f...	OMIM:605309
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Micromelia, Preaxial polydactyly, Hypoplasia of the brainstem, Atri...	OMIM:616546
Complete Androgen Insensitivity Syndrome	Male infertility, Tall stature, Abnormal uterine cervix morphology, Elevated circulating luteiniz...	ORPHA:99429
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Micromelia, Micrognathia, Epispadias, Abnormality of the gingiva, High, narr...	ORPHA:3107
Bilateral Striopallidodentate Calcinosis	Cerebral calcification, Microcephaly, Abnormality of neuronal migration, Intrauterine growth reta...	ORPHA:1980
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Mandibular prognathia, Short fourth metatarsal, Septo-optic dysplasi...	OMIM:619841
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Agenesis of cerebellar verm...	OMIM:608091
Juvenile Sialidosis Type 2	Protruding tongue, Gingival overgrowth, Abnormal heart morphology, Umbilical hernia, Cherry red s...	ORPHA:93399
Alagille Syndrome	Hypoplasia of the ulna, Failure to thrive, Atrial septal defect, Ventricular septal defect, Micro...	ORPHA:52
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Cerebellar vermis hypoplasia, Abnormal lung lobation, Renal cyst, Narrow g...	OMIM:312870
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Short stature, Reduced cerebral white matter volume, Hydrocephalus, Macrocephaly, Hypoplasia of t...	OMIM:618174
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Reduced intraabdominal adipose tissue, General...	ORPHA:363400
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Cleft lip, Anosmia, Primary amenorrhea, High palat...	OMIM:612702
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Anteverted nares, Micromelia, Depressed nasal brid...	ORPHA:93329
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Depressed nasal bridge, Hypospad...	OMIM:619736
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Relative macrocephaly, Syndactyly, Depressed nasal bridge, Ventricular septal defect, Micromelia,...	OMIM:617895
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Bardet-Biedl Syndrome 21	Elevated hepatic transaminase, Overweight, Obesity	OMIM:617406
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of the temporomandibular joint, Protruding tongue, Atelectasis, Open mouth, Flexion c...	ORPHA:258
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Ulnar deviation of the hand, Hypogonadotropic hypogonadism, Short stature, Limb joint contracture...	OMIM:612079
Phocomelia, Schinzel Type	Hypoplasia of penis, Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Fo...	ORPHA:2879
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Decreased circula...	OMIM:202010
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Dental crowding, Coloboma, Atrial septal defect, Vesicoureteral reflux, Jo...	ORPHA:353281
2Q24 Microdeletion Syndrome	Toe syndactyly, Small for gestational age, Camptodactyly of finger, Hypertelorism, Long fingers, ...	ORPHA:1617
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Ventricular septal defect, Short stature, Hydrocephalus, Postaxial ...	OMIM:615630
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Rhizomelia, Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Neoplasm of the nose, Nasal polyposis, Intestinal obstruction, Stomach...	ORPHA:2869
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus...	OMIM:612965
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Hypoplasia of penis, Short stature, Micromelia, Microcephaly, Postaxial hand polyd...	ORPHA:2491
Bartsocas-Papas Syndrome 1	Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Ectopic kidney, Flexion contra...	OMIM:263650
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus, Periodontitis, Gingivitis, Abnormality of the dentition	ORPHA:1008
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Cryptorchidism, Anosmia, Osteoporosis, Primary amenorrhea, Genu valgum, Cleft palate,...	OMIM:614880
Lipodystrophy, Congenital Generalized, Type 2	Mandibular prognathia, Cystic angiomatosis of bone, Tall stature, Decreased serum leptin, Decreas...	OMIM:269700
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Cerebellar vermis hypoplasia, Cerebral calcification, Neonatal death, Atrial septal defect, Pachy...	OMIM:620024
Mulibrey Nanism	Dental crowding, Single transverse palmar crease, Cardiomegaly, Absent frontal sinuses, Pericardi...	OMIM:253250
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Dental crowding, High palate, Atrial septal defect, Clinodactyly of t...	OMIM:612582
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Failure to...	ORPHA:783
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Aganglioni...	ORPHA:475
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Bicuspid aortic valve, Cardiomegaly, Abnormally large globe, Micrognathia, Shoulder d...	OMIM:245600
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Hyperte...	ORPHA:1825
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Short stature, Hydrocephalus, Metaphyseal cupping of proximal phala...	OMIM:300863
Non-Syndromic Metopic Craniosynostosis	Wide nasal bridge, Hypotelorism	ORPHA:3366
Anencephaly 2	Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Bifid nose, Median c...	OMIM:619452
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi...	ORPHA:3429
3M Syndrome	Congenital hip dislocation, Micromelia, Abnormal cerebral vascular morphology, Clinodactyly of th...	ORPHA:2616
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ...	ORPHA:64739
Poirier-Bienvenu Neurodevelopmental Syndrome	Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum	OMIM:618732
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Cardiofaciocutaneous Syndrome	High palate, Biparietal narrowing, Atrial septal defect, Long philtrum, Anteverted nares, Abnorma...	ORPHA:1340
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Small scrotum, Cerebral calcification, Hypotelorism, Reduced bone mineral density, De...	OMIM:613658
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Death in infancy, Rhizomelia, Short stature, Micrognathia, Metaphyseal chondrodysplas...	ORPHA:163966
Achondroplasia	Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Microphthalmia, Isolated 4	Microphthalmia, Coloboma, Absent testis, Postaxial polydactyly	OMIM:613094
Thanatophoric Dysplasia Type 1	Micromelia, Femoral bowing, Atrial septal defect, Depressed nasal bridge, Abnormal sacroiliac joi...	ORPHA:1860
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Short stature, Microcephaly, Hip dislocation, Obesity, Cerebral atrophy, Talipes equinovarus, Hyp...	OMIM:616756
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Porencephalic cyst, Lobulated tongue, High palate, Short...	OMIM:252100
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Urinar...	ORPHA:261537
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
14Q11.2 Microduplication Syndrome	Depressed nasal bridge, Exaggerated cupid's bow, Microcephaly, Micrognathia, Hypertelorism, Wide ...	ORPHA:261229
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis	ORPHA:436182
Biemond Syndrome Ii	Short stature, Abnormality of the endocrine system, Preaxial hand polydactyly, Hydrocephalus, Iri...	OMIM:210350
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ...	OMIM:617303
Recombinant 8 Syndrome	Small scrotum, Micrognathia, Downturned corners of mouth, Atrial septal defect, Clinodactyly of t...	ORPHA:96167
Carpenter Syndrome 2	Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, Preaxial polydact...	OMIM:614976
Seckel Syndrome 9	Atrial septal defect, Clitoral hypertrophy, Recurrent respiratory infections, Small for gestation...	OMIM:616777
Oculoauricular Syndrome	Cataract, Sclerocornea, Chorioretinal atrophy, Developmental cataract, Microcornea, Iris cyst, Ma...	OMIM:612109
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Short stature, Microcephaly, Tapered finger, Downturned corners of mouth, Truncal obesity, Deeply...	ORPHA:85280
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Congeni...	ORPHA:3455
Gracile Bone Dysplasia	Death in infancy, Short stature, Hydrocephalus, Flared metaphysis, Thin ribs, Decreased skull oss...	OMIM:602361
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
White-Sutton Syndrome	Mandibular prognathia, Micrognathia, Downturned corners of mouth, Short philtrum, High palate, At...	OMIM:616364
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Micrognathia, Deeply set eye, High palate, Short philtrum, Clinodactyly of the 5th finger, Anteve...	OMIM:618443
16Q24.3 Microdeletion Syndrome	Smooth philtrum, Anteverted nares, Optic nerve hypoplasia, Proximal placement of thumb, Ventricul...	ORPHA:261250
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ...	ORPHA:2141
Warburg Micro Syndrome 2	Small scrotum, Overlapping toe, Prominent nasal bridge, Microcephaly, Postnatal growth retardatio...	OMIM:614225
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Macrocephaly at birth, Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Orofacial c...	ORPHA:324416
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Tented upper lip vermilion, Micrognathia, High, narrow palate, Abnormal lung lobation...	ORPHA:369837
Pierre Robin Sequence With Facial And Digital Anomalies	Micrognathia, Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate...	OMIM:311895
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Microcephaly, Hypoplasi...	ORPHA:178303
Autosomal Dominant Spondylocostal Dysostosis	Recurrent respiratory infections, Severe short stature, Anteverted nares, Microcephaly, Missing r...	ORPHA:1797
Meier-Gorlin Syndrome 7	Urethral stricture, Bowing of the legs, Anteriorly placed anus, High palate, Atrial septal defect...	OMIM:617063
Hemochromatosis, Type 4	Hepatomegaly, Hepatic steatosis, Cirrhosis	OMIM:606069
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Lipody...	OMIM:615381
Optic Pathway Glioma	Precocious puberty, Hydrocephalus, Proptosis, Growth delay	ORPHA:2086
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Micrognathia, High palate, Protein-losing enteropathy, Micropenis, Death in infancy, Thyroid lymp...	OMIM:235255
Tarp Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, Atrial septal defect, Finger syndact...	ORPHA:2886
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Relative macrocephaly, Cerebellar vermis hypoplasia, Depressed nasal bridge, Short stature, Sagit...	ORPHA:459061
Rotor Syndrome	Jaundice, Storage in hepatocytes, Intermittent jaundice	ORPHA:3111
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Limited elbo...	OMIM:610759
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Short stature, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow e...	OMIM:614078
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati...	ORPHA:572333
Isolated Exencephaly	Depressed nasal bridge, Anterior pituitary hypoplasia, Maternal diabetes, Abnormal facial skeleto...	ORPHA:563612
Adnp Syndrome	Single transverse palmar crease, Urinary incontinence, Abnormal finger morphology, Advanced erupt...	ORPHA:404448
Fallot Complex With Severe Mental And Growth Retardation	Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis, Double outlet right ventricle,...	OMIM:601127
Kapur-Toriello Syndrome	Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Pachygyria, Dysplastic co...	ORPHA:2328
Osseous Heteroplasia, Progressive	Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue	OMIM:166350
De Barsy Syndrome	Osteopenia, Congenital hip dislocation, Cerebellar vermis hypoplasia, Generalized joint laxity, C...	ORPHA:2962
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity	OMIM:618725
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Cerebral white matter atrophy, Proximal placement of thumb, Prominent nose...	ORPHA:435638
Mesoaxial Hexadactyly And Cardiac Malformation	Ventricular septal defect, External genital hypoplasia, Short stature, Patent ductus arteriosus, ...	OMIM:249670
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hypotelorism, Downturned corners of mouth, Microcephaly	OMIM:618718
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Hypotelorism, Failure to thrive, Hypoplasia of the corpus callosum, Microcephaly	ORPHA:477673
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Death in infancy, Vertebral fusion, Bicuspid aortic valve, Unilateral renal agenesis, Anomalous o...	OMIM:618845
Orofaciodigital Syndrome V	Lobulated tongue, High palate, Agenesis of corpus callosum, Bifid uvula, Hamartoma of tongue, Hyp...	OMIM:174300
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Cerebral white matter atrophy, Short stature, Absent pubertal growth spurt, Urinary incontinence,...	ORPHA:464282
Hamamy Syndrome	Osteopenia, Micrognathia, High palate, Atrial septal defect, Clinodactyly of the 5th finger, Hypo...	OMIM:611174
Lipodystrophy, Congenital Generalized, Type 1	Mandibular prognathia, Cystic angiomatosis of bone, Tall stature, Diabetes mellitus, Decreased se...	OMIM:608594
Oculogastrointestinal Neurodevelopmental Syndrome	Bicuspid aortic valve, Short stature, Microcephaly, Bilateral microphthalmos, Unilateral micropht...	OMIM:619318
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Bicuspid aortic valve, Micrognathia, Ectopic kidney, High, narrow palate, Dermatoglyp...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Bicuspid aortic valve, Micrognathia, Ectopic kidney, High, narrow palate, Dermatoglyp...	ORPHA:99228
Monosomy X	Osteopenia, Bicuspid aortic valve, Micrognathia, Ectopic kidney, High, narrow palate, Dermatoglyp...	ORPHA:99226
Turner Syndrome	Osteopenia, Bicuspid aortic valve, Micrognathia, Ectopic kidney, High, narrow palate, Dermatoglyp...	ORPHA:881
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:601390
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Prominent nasal bridge, Microc...	ORPHA:1587
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Anal atresia, Short stature, Tracheomalacia, Large for gestational age, Precocious p...	ORPHA:261652
Mowat-Wilson Syndrome	Bifid scrotum, Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Urinar...	ORPHA:2152
Premature Ovarian Failure 21	Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ...	OMIM:620311
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Broad nasal ...	OMIM:620157
Pontocerebellar Hypoplasia, Type 15	Death in infancy, Partial agenesis of the corpus callosum, Hydrocephalus, Simplified gyral patter...	OMIM:619302
Pierre Robin Syndrome	Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis	OMIM:261800
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Joint stiffness, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly,...	ORPHA:2182
Beaulieu-Boycott-Innes Syndrome	Premature ovarian insufficiency, Ventricular septal defect, Endometriosis, Microcephaly, Long nos...	OMIM:613680
Giacheti Syndrome	Tall stature, Hypotelorism	OMIM:612917
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Dextrocard...	ORPHA:220493
Sub-Cortical Nodular Heterotopia	Subcortical heterotopia, Abnormality of neuronal migration, Abnormal basal ganglia morphology, Hy...	ORPHA:101029
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Ventricular septal defect...	OMIM:611134
Kabuki Syndrome 1	Congenital hip dislocation, Premature thelarche, Micrognathia, High palate, Atrial septal defect,...	OMIM:147920
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Atrial septal defect, Death in infancy, Patent ductus arteri...	OMIM:614576
Trichothiodystrophy 8, Nonphotosensitive	Thin upper lip vermilion, Prominent nose, Hypotelorism, Long philtrum, Retrognathia	OMIM:619691
Lead Poisoning	Delayed eruption of teeth, Decreased female libido, Small for gestational age, Miscarriage, Abnor...	ORPHA:330015
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Thin upper lip vermilion, Anteverted nares, Single transverse palmar cr...	OMIM:613443
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Joint laxity, Thin upper lip vermilion, Wide nose, Overriding aorta, Sandal gap, Failure to thriv...	ORPHA:477817
Dentici-Novelli Neurodevelopmental Syndrome	Thin upper lip vermilion, Prominent nasal bridge, Microcephaly, Precocious puberty, Hypertelorism...	OMIM:619877
Obesity, Hyperphagia, And Developmental Delay	Obesity	OMIM:613886
Carey-Fineman-Ziter Syndrome 1	Micrognathia, Flexion contracture, Glossoptosis, Hypoplasia of the brainstem, High palate, Anteve...	OMIM:254940
Gapo Syndrome	Mandibular prognathia, Dysmenorrhea, Abnormal cerebral vascular morphology, Micrognathia, Thick n...	ORPHA:2067
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Abnormal salivary gland morpholo...	ORPHA:2298
Congenital Disorder Of Glycosylation, Type Iif	Proteinuria, Microcephaly, Hypotelorism, Deeply set eye, Aminoaciduria, Short philtrum, Clinodact...	OMIM:603585
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev...	OMIM:219080
Meckel Syndrome, Type 9	Occipital encephalocele, Multicystic kidney dysplasia, Limb undergrowth, Talipes equinovarus, Amb...	OMIM:614209
Joubert Syndrome With Oculorenal Defect	Encephalocele, Renal insufficiency, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nas...	ORPHA:2318
Renal And Mullerian Duct Hypoplasia	Micrognathia, Hypertelorism, Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly dis...	OMIM:266810
Congenital Disorder Of Deglycosylation 2	Ulnar deviation of the hand, Sandal gap, Cerebellar vermis hypoplasia, Hamartoma of tongue, Micro...	OMIM:619775
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Cockayne Syndrome A	Mandibular prognathia, Prominent nose, Basal ganglia calcification, Ivory epiphyses of the phalan...	OMIM:216400
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Microcephaly, Hydrocephalus, Elbow flexion contracture, Simplified gyral pattern, Periventricular...	OMIM:619470
Trisomy 20P	Micrognathia, Reduced bone mineral density, Downturned corners of mouth, Short philtrum, Microdon...	ORPHA:261318
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Congenital Macroglossia	Abnormal hepatic glycogen storage	ORPHA:2430
Den Hoed-De Boer-Voisin Syndrome	Widely spaced teeth, Decreased body weight, Amelogenesis imperfecta, Overweight, 2-3 toe syndacty...	OMIM:619229
Alström Syndrome	Abnormality of dental color, Decreased response to growth hormone stimulation test, Urinary incon...	ORPHA:64
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Obesity, Cerebral atrophy, Wide nasal bridge, Wide mouth, Bilateral talipes equino...	OMIM:616521
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Depressed nasal b...	OMIM:619124
Mend Syndrome	Microretrognathia, Smooth philtrum, Crossed fused renal ectopia, Broad hallux, Overlapping toe, P...	OMIM:300960
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Aganglionic megacolon, Tapered finger, Megalencephaly, ...	OMIM:613603
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Truncal obesity, Deeply set eye, Sho...	ORPHA:2429
Czeizel-Losonci Syndrome	Single transverse palmar crease, Micrognathia, High palate, Spina bifida occulta, Spina bifida, M...	ORPHA:2437
Hogue-Janssen Syndrome 2	Tented upper lip vermilion, Broad hallux, Anteverted nares, Postaxial polydactyly, Microcephaly, ...	OMIM:616362
Chromosome 16P13.3 Deletion Syndrome, Proximal	Death in infancy, Broad hallux, Convex nasal ridge, Microcephaly, Prominent nose, Micrognathia, O...	OMIM:610543
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Microretrognathia, Agenesis of cerebellar vermis, Depressed nasal bridg...	OMIM:220220
Glycogen Storage Disease Of Heart, Lethal Congenital	Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content,...	OMIM:261740
Muscle-Eye-Brain Disease	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Lambert Syndrome	Ventricular septal defect, Hypospadias, Failure to thrive in infancy, Wide mouth, Branchial anoma...	ORPHA:1296
Marden-Walker Syndrome	Micrognathia, Epispadias, Agenesis of corpus callosum, Bifid uvula, Abnormal penis morphology, Mu...	ORPHA:2461
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Short stature, Micromelia, Micrognathia, Hypertelorism, Abnormality of the ure...	ORPHA:2145
Post-Traumatic Pituitary Deficiency	Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,...	ORPHA:95619
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili...	ORPHA:567983
Acrofrontofacionasal Dysostosis 2	Bifid scrotum, Syndactyly, Wide nose, Broad hallux, Hypospadias, Short stature, Microcephaly, Hyp...	OMIM:239710
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Fraser-Like Syndrome	Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping toe	OMIM:229230
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Overlapping toe, Supernumerary nipple, Tapered finger, Microcephaly, Cryptorchidism, Hyperteloris...	OMIM:618653
Premature Ovarian Failure 8	Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr...	OMIM:615723
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger syndactyly, Fused ce...	ORPHA:3320
Donnai-Barrow Syndrome	Depressed nasal bridge, Ventricular septal defect, Proteinuria, Broad nasal tip, Hypertelorism, N...	OMIM:222448
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis	OMIM:604273
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ...	OMIM:273250
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Exaggerated cupid's bow, Underdeveloped nasal alae, Micrognathia, C...	OMIM:614230
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Severe short stature, Rhizomelia, Depressed nasal bridge, Urinary incontinence, Megalencephaly, H...	OMIM:616482
Fanconi Anemia, Complementation Group L	Micrognathia, Micropenis, Hypertelorism, Esophageal atresia, Wide nasal bridge, Renal hypoplasia,...	OMIM:614083
Pallister-Killian Syndrome	Small scrotum, Congenital hip dislocation, Single transverse palmar crease, Tented upper lip verm...	OMIM:601803
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Tapered finger, Micrognathia, Hypertelorism, Partial agenesis of the corpus callosum, Narrow mout...	OMIM:620250
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Gracile Syndrome	Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration	ORPHA:53693
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hypoglycemia, Splenomegaly, Nephrolithiasis, Foca...	OMIM:232220
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Depressed nasal bridge, Hydrocephalus, Wide mouth, Deeply set ...	ORPHA:60040
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Spinal Muscular Atrophy With Mental Retardation	Syndactyly, Microcephaly	OMIM:271109
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Tall stature	ORPHA:3000
Senior-Loken Syndrome 9	Osteopenia, Hypoplasia of the femoral head, Obesity, Stage 5 chronic kidney disease, Tubulointers...	OMIM:616629
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ...	ORPHA:1067
Xq12-Q13.3 Duplication Syndrome	Abnormal basal ganglia MRI signal intensity, Decreased serum insulin-like growth factor 1, Depres...	ORPHA:314389
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Coxa vara, High palate, Wrist flexion contracture, Long philtrum, Purse...	ORPHA:800
8P23.1 Duplication Syndrome	Wide nose, Toe syndactyly, Ventricular septal defect, Hypertelorism, Deeply set eye, Adrenal insu...	ORPHA:251076
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Osteopathia striata, Cran...	OMIM:300373
Premature Ovarian Failure 5	Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas...	OMIM:611548
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Bicuspid aortic valve, Single transverse palmar crease, High, narrow palate, Colob...	OMIM:619475
Cerebellar-Facial-Dental Syndrome	Single transverse palmar crease, Micrognathia, Hypoplasia of the pons, Hypoplasia of the brainste...	ORPHA:444072
6Q Terminal Deletion Syndrome	Micrognathia, High, narrow palate, Joint laxity, Aplasia/Hypoplasia of the ribs, Hypospadias, Hyp...	ORPHA:75857
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Broad ribs, Broad metacarpals, Depressed nasal bridge, Tapered finger, Precocious puberty, Hypert...	OMIM:301066
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Urinar...	ORPHA:261552
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Hig...	ORPHA:373
2,4-Dienoyl-Coa Reductase Deficiency	Death in infancy, Microcephaly, Hydrocephalus, Cerebral atrophy, Increased CSF lactate, Colpoceph...	OMIM:616034
Myhre Syndrome	Mandibular prognathia, External genital hypoplasia, Hypoplasia of the maxilla, Epispadias, Short ...	ORPHA:2588
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Single transverse palmar crease, Renal cyst, Hypoplasia of the brainstem, Choanal stenosis, Multi...	OMIM:236500
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Hypoketotic hypoglycemia, Dilated cardiomyopathy, Cardiomegaly	OMIM:600649
Orofaciodigital Syndrome Type 14	Bilateral cryptorchidism, Epispadias, Partial agenesis of the corpus callosum, Aplasia of the epi...	ORPHA:434179
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Downturned corners of mouth,...	ORPHA:444077
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Increased bone mineral density, Micrognathia, Cryptorchidism, Bulbou...	ORPHA:1237
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, S...	ORPHA:457193
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Hypointensity of cerebral white matter on MRI, Broad hallux, Depressed nasal bridge, Hyperteloris...	OMIM:300860
Leprechaunism	Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,...	ORPHA:508
Congenital Toxoplasmosis	Cerebral calcification, Failure to thrive in infancy, Microcephaly, Cardiomegaly, Hydrocephalus, ...	ORPHA:858
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Hypospadias, Depressed nasal bridge, Ventricular septal defect, Microcepha...	OMIM:619103
Coccidioidomycosis	Broad skull, Abnormal long bone morphology, Abnormality of the male genitalia, Broad ribs, Abnorm...	ORPHA:228123
Cockayne Syndrome B	Mandibular prognathia, Basal ganglia calcification, Ivory epiphyses of the phalanges of the hand,...	OMIM:133540
Joubert Syndrome With Renal Defect	Encephalocele, Renal insufficiency, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nas...	ORPHA:220497
Fragile X Syndrome	Macroorchidism, postpubertal, Mandibular prognathia, Joint laxity, Periventricular heterotopia, M...	OMIM:300624
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Aqueductal stenosis, Simplified gyral pattern, Neonatal death, Short ti...	OMIM:251230
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Hypoglycemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Fas...	OMIM:232200
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Decreased response to growth hormone stimulation test, Abnormal cerebrospinal fluid morphology, P...	ORPHA:91354
Codas Syndrome	Congenital hip dislocation, Proximal placement of thumb, Broad skull, Generalized joint laxity, A...	OMIM:600373
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Gingivi...	ORPHA:534
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism, Stroke, Obesity, Short stature	ORPHA:3077
Encephalocraniocutaneous Lipomatosis	Peripheral pulmonary artery stenosis, Ventricular septal defect, Cryptorchidism, Hydrocephalus, C...	OMIM:613001
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Osteosclerosis of the base of the skull, Hypoplasia of the ovary, Premature ovarian insufficiency...	OMIM:609993
Microcephaly-Capillary Malformation Syndrome	Hypoplasia of the maxilla, Clinodactyly, Simplified gyral pattern, Vesicoureteral reflux, Atrial ...	OMIM:614261
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Jaundice, C...	ORPHA:79303
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Anosmia, Decreased circulating luteinizing hormone level, Decrease...	OMIM:614842
Catel-Manzke Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th...	OMIM:616145
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Short stature, Accessory oral frenulum, Hypertelorism, Osteolysis involving bones of ...	ORPHA:88630
Atelosteogenesis, Type Ii	Death in infancy, Sandal gap, Depressed nasal bridge, Micromelia, Micrognathia, Bifid humerus, Fl...	OMIM:256050
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li...	OMIM:119500
15Q Overgrowth Syndrome	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	ORPHA:314585
Peroxisome Biogenesis Disorder 5A (Zellweger)	Single transverse palmar crease, Micrognathia, Renal cyst, High palate, Atrial septal defect, Pac...	OMIM:614866
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv...	OMIM:212140
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Dystonia 28	Short stature, Microcephaly, Precocious puberty, Globus pallidus hypointensity on susceptibility-...	ORPHA:589618
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Short stature, Flexion contracture, Steatorrhea, Hypotelorism, Shallow orbit...	ORPHA:440713
Noonan Syndrome 8	Relative macrocephaly, Atrial septal defect, Left ventricular hypertrophy, Ventricular septal def...	OMIM:615355
Premature Ovarian Failure 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th...	OMIM:615724
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Chromosome 9P Deletion Syndrome	Micrognathia, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, Micropenis, ...	OMIM:158170
Hyperlysinemia	Short stature, Abnormal CSF ornithine concentration, Microcephaly, Craniosynostosis, Argininuria,...	ORPHA:2203
Greenberg Dysplasia	Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Pa...	OMIM:215140
Thyrotropin-Releasing Hormone Deficiency	Hypothalamic hypothyroidism, Hypothyroidism, Short stature	OMIM:275120
Prolactinoma	Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fertility i...	ORPHA:2965
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Alstrom Syndrome	Renal insufficiency, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimula...	OMIM:203800
Crouzon Syndrome	Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypertelorism, Hypoplasia of t...	OMIM:123500
Spondyloepimetaphyseal Dysplasia, Krakow Type	Atrial septal defect, Decreased serum insulin-like growth factor 1, Rhizomelia, Ulnar deviation o...	OMIM:618162
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cachexia, Cardiomegaly, Distal arthrogryposis, Decre...	ORPHA:42
Opitz Gbbb Syndrome	Abnormal nasopharynx morphology, Cerebellar vermis hypoplasia, Rectourethral fistula, High palate...	OMIM:300000
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, Single transverse palmar crease, High palate, Short philtrum, Broad h...	OMIM:614105
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Short metacarpal, Ventricular septal defect, Short stature, Craniosynostosis, Unde...	ORPHA:166035
Premature Ovarian Failure 3	Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:608996
Acrofrontofacionasal Dysostosis	Bifid scrotum, Brachydactyly, Hypospadias, Camptodactyly of finger, Micromelia, Broad nasal tip, ...	ORPHA:1784
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the maxilla, High palate, Microdontia, Abnormality...	ORPHA:1307
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Subcortical heterotopia, Partial agenesis of the corpus callosum, Deeply set eye, Hypoplasia of t...	OMIM:614643
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormal venous morphology, Macrodactyly, Abnormal cerebral vascular morphology, 2-4 toe syndacty...	ORPHA:276280
Smith-Magenis Syndrome	Mandibular prognathia, Everted upper lip vermilion, Short stature, Abnormality of the dentition, ...	OMIM:182290
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism	OMIM:613546
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, High palate, Shallow orbits, Vesicoureteral reflux, Cli...	OMIM:616580
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Downturned corners of mouth, High palate, Triphalangeal thumb, Atrial septal defect, Clinodactyly...	OMIM:220500
Frontorhiny	Encephalocele, Pericallosal lipoma, Camptodactyly of finger, Hypertelorism, Hypoplasia of the max...	ORPHA:391474
4Q21 Microdeletion Syndrome	Toe syndactyly, Depressed nasal bridge, Micromelia, Hypertelorism, Abnormality of the dentition, ...	ORPHA:238750
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane...	OMIM:151660
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Proximal placement of thumb, Long nose, Partial agenesis of the corpus callosum, High palate, Cli...	OMIM:620113
Costello Syndrome	Failure to thrive in infancy, Depressed nasal bridge, Ventricular septal defect, Abnormal dental ...	ORPHA:3071
Chromosome Xq21 Deletion Syndrome	Obesity	OMIM:303110
Subaortic Stenosis-Short Stature Syndrome	Anteverted nares, Short stature, Micrognathia, Obesity, Membranous subvalvular aortic stenosis, T...	ORPHA:3191
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, High palate, Atrial se...	OMIM:244450
Edinburgh Malformation Syndrome	U-Shaped upper lip vermilion, Death in infancy, Hydrocephalus, Failure to thrive	OMIM:129850
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Wide nose, Sandal gap, Broad hallux, Dental crowding, Hypertelorism, Cr...	OMIM:616078
Noonan Syndrome 4	Ureteral duplication, Depressed nasal bridge, Ventricular septal defect, Short stature, Large for...	OMIM:610733
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finger, ...	ORPHA:568
Rabin-Pappas Syndrome	Mandibular prognathia, Failure to thrive in infancy, Optic nerve hypoplasia, Microcephaly, Hypopl...	OMIM:620155
Congenital Disorder Of Glycosylation, Type Iit	Tented upper lip vermilion, Sandal gap, Prominent nasal bridge, Short stature, Microcephaly, Hype...	OMIM:618885
Man1B1-Cdg	Eclabion, Thin upper lip vermilion, Wide nose, Joint hypermobility, Prominent nose, Hypertelorism...	ORPHA:397941
Feingold Syndrome 2	Ventricular septal defect, Short stature, Short middle phalanx of the 2nd finger, Short thumb, Po...	OMIM:614326
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Prominent nose, Long nose, Micrognathia, Abnormal finger morphology, Shor...	ORPHA:2636
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Micrognathia, Abnormal tibia morphology, Hypotelorism, High palate, Proportionate tall...	ORPHA:363700
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Joint laxity, Arachnodactyly, Ventricular septal defect, Cryptorchidism, Disproportionate tall st...	OMIM:301039
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Small scrotum, Increased density of long bones, Single transvers...	OMIM:269150
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Joint laxity, Microcephaly, Precocious puberty, Cortical dysplasia, Orofacial cleft, Hypoplasia o...	ORPHA:457260
Noonan Syndrome 12	11 pairs of ribs, Ventricular septal defect, Decreased response to growth hormone stimulation tes...	OMIM:618624
Kbg Syndrome	Tented upper lip vermilion, Single transverse palmar crease, Epispadias, Widely-spaced maxillary ...	OMIM:148050
Genitopatellar Syndrome	Small scrotum, Congenital hip dislocation, Prominent nose, Micrognathia, Knee flexion contracture...	OMIM:606170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Microcephaly, Hydrocephalus, Flexion contracture, Cardiomyopathy, H...	OMIM:613155
17Q24.2 Microdeletion Syndrome	Thin upper lip vermilion, Failure to thrive in infancy, Decreased response to growth hormone stim...	ORPHA:529962
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Tented upper lip vermilion, Abnormally large globe, Anteriorly placed anus...	OMIM:239300
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Hypoplasia of penis, Wide nose, Exaggerated cupid's bow, Camptodactyly of fing...	ORPHA:284160
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect...	OMIM:113000
Morm Syndrome	Truncal obesity	ORPHA:75858
1Q44 Microdeletion Syndrome	Smooth philtrum, Optic disc hypoplasia, Short stature, Exaggerated cupid's bow, Microcephaly, Mic...	ORPHA:238769
Lissencephaly 5	Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Porencephalic cyst, Subcort...	OMIM:615191
Toriello-Carey Syndrome	Micrognathia, Partial agenesis of the corpus callosum, Clinodactyly, Anteriorly placed anus, High...	ORPHA:3338
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Vesicoureteral reflux, Atrial septal defec...	OMIM:609053
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Increased muscle glycogen content	OMIM:261750
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Congenital Myopathy 9A	Death in infancy, Short stature, Cryptorchidism, Obesity, Tongue fasciculations	OMIM:618822
Aicardi-Goutieres Syndrome 4	Cerebral calcification, Hydrocephalus, Cerebral atrophy, CSF lymphocytic pleiocytosis, Progressiv...	OMIM:610333
Mosaic Trisomy 16	Single transverse palmar crease, Maternal diabetes, Abnormal lung morphology, Anteriorly placed a...	ORPHA:1708
Seckel Syndrome 2	Hypospadias, Small for gestational age, Short stature, Microcephaly, Prominent nose, Micrognathia...	OMIM:606744
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly, Macrocephaly	OMIM:611808
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Urinary incontinence, Posterior fossa cyst at th...	ORPHA:2356
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Microcephaly-Cardiomyopathy Syndrome	Ventricular septal defect, Sandal gap, Short stature, Microcephaly, High, narrow palate, Dilated ...	ORPHA:2515
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm...	ORPHA:90790
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Anteverted nares, Depressed nasal bridge, Ventricular septal defect, Aplasia/Hypoplasia of the ce...	ORPHA:75389
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corpus callosum, Simplified g...	ORPHA:300570
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Convex nasal ridge, Short stature, Microcephaly, Prominent nose, Microg...	OMIM:613684
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly...	OMIM:251880
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Micrognathia, Flexion contracture, Knee flexion contracture, Downtur...	OMIM:265000
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Short stature, Hypertelorism, Retrognathia, Orofacial cleft, Wide mouth...	OMIM:614583
Pigmented Nodular Adrenocortical Disease, Primary, 4	Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp...	OMIM:615830
X-Linked Intellectual Disability, Shashi Type	Macroorchidism, Bulbous nose, Everted lower lip vermilion, Obesity	ORPHA:85286
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation, Macrocephaly	OMIM:607091
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect, Unilateral renal agenesis, Abnormally large globe, Cryptorchidism, Dee...	OMIM:618504
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micrognathia, Preaxial polydactyly, Narrow greater sciatic notch, Absent nasal bridge, Neonatal d...	OMIM:617925
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney	OMIM:608022
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Metaphyseal widening, Short phalanx of finger, ...	OMIM:615777
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Premature ovarian insufficiency, Short stature, Camptodactyly of finger, Micromelia, Ulnar deviat...	ORPHA:2928
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Broad hallux, Anteverted nares, Hypertelorism, Postaxial hand polyd...	OMIM:617127
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Olivopontocerebellar hypoplasia, Ant...	ORPHA:457284
Odontochondrodysplasia 1	Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Genu varum, Long phi...	OMIM:184260
Tyshchenko Syndrome	Ventricular septal defect, Short stature, Supernumerary nipple, Cryptorchidism, High, narrow pala...	OMIM:615102
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Obesity	OMIM:614651
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Osteopenia, Recurrent respiratory infections, Diabetes mellitus, Small scrotum, External genital ...	OMIM:614231
Vitamin D-Dependent Rickets, Type 2A	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Elevated circ...	OMIM:277440
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dental crowding, Anterior pituitary hypoplasia, Prominent nose, Bilateral cryptorchidism, High, n...	ORPHA:466791
Meier-Gorlin Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Flexion contracture, Cutaneous finge...	OMIM:224690
Yuan-Harel-Lupski Syndrome	Joint laxity, Thin upper lip vermilion, Wide nose, Bicuspid aortic valve, Sandal gap, Ventricular...	OMIM:616652
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Lissencephaly 6 With Microcephaly	Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Tapered finger, Micr...	OMIM:616212
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Hypertelorism, Hypoplasia of the maxilla, Hydrocephalus, Proptosis, Abnormal met...	ORPHA:93262
Monosomy 13Q34	Metrorrhagia, Epistaxis, Prominent nasal bridge, Microcephaly, Prominent nose, Broad nasal tip, P...	ORPHA:96168
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Micrognathia, High, narrow pa...	OMIM:619472
Tetrasomy 5P	Pericallosal lipoma, Recurrent respiratory infections, Overlapping toe, Anteverted nares, Short h...	ORPHA:3309
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Hurler Syndrome	Metaphyseal widening, Flexion contracture, Endocardial fibroelastosis, Microdontia, Hypoplasia of...	OMIM:607014
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity	ORPHA:521390
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, L...	OMIM:213980
Char Syndrome	Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Supernumerary nipple, Dep...	ORPHA:46627
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Congenital hip dislocation, Bicuspid aortic valve, Micrognathia, Hypotelorism, Should...	ORPHA:536545
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas...	ORPHA:67045
Hypogonadotropic Hypogonadism 27 Without Anosmia	Obesity	OMIM:619755
Joubert Syndrome 38	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Cerebellar vermis hypo...	OMIM:619476
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Short stature, Bilateral cryp...	OMIM:300472
Fried Syndrome	Hydrocephalus, Cerebral calcification, High palate, Short philtrum	ORPHA:85335
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Micromelia, Cardiomegaly, Delayed epiphyseal ossification, Deep philtrum, Death in childhood, Dea...	OMIM:613320
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dilation of Virchow-Robin spaces, Tapered toe, Tapered finger, Bilateral cryptorchidism, Dysplast...	ORPHA:544488
Oculoauriculofrontonasal Syndrome	Encephalocele, Pericallosal lipoma, Wide nose, Ventricular septal defect, Microcephaly, Underdeve...	ORPHA:398156
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Prominent nasal bridge, Aqueductal stenosis, Hand oligodact...	ORPHA:1788
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Prominent nasal bridge, Proportionate short stature, Precocious puberty, Moderate alb...	OMIM:619269
Iniencephaly	Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hydrocephalus, Myelomeningocele, Ane...	ORPHA:63259
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Right ventricular dilatation, Anteriorly placed anus, High palate, Atrial se...	OMIM:612863
Cutis Laxa, Autosomal Recessive, Type Iie	Joint laxity, Syndactyly, Short stature, Craniosynostosis, Broad nasal tip, Thick lower lip vermi...	OMIM:619451
Hall-Riggs Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Short stature, Mi...	ORPHA:2107
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Craniosynostosis, Microcephaly, Hydrocephalus, Frontal encephalocele, Liss...	ORPHA:1528
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Adrenal hypop...	OMIM:308050
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Developmental Delay With Variable Neurologic And Brain Abnormalities	Wide nose, Anteverted nares, Down-sloping shoulders, Microcephaly, Micrognathia, Microdontia, Kne...	OMIM:619694
Ring Chromosome 12 Syndrome	Syndactyly, Small for gestational age, Microcephaly, Secundum atrial septal defect, Cryptorchidis...	ORPHA:1439
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Long nose, Deeply set eye, Narrow greater sciatic notch, Sh...	ORPHA:508533
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity,...	ORPHA:2751
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Multiple joint contractures, Selective tooth agenesis, Micrognathia, Decreased serum ...	ORPHA:2959
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Hypoglycemia, Splenomegaly, Nephrocalcinosis, Renal Fanconi sy...	OMIM:276700
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Anteverted nares, Depressed nasal bridge, Hypertelorism, Metaphyseal widening, Squ...	OMIM:618961
Feingold Syndrome Type 2	Toe syndactyly, Ventricular septal defect, Short stature, Jejunal atresia, Microcephaly, Short th...	ORPHA:391646
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Cryptorchidism, Genu valgum, Ab...	ORPHA:1381
Roifman Syndrome	Single transverse palmar crease, Downturned corners of mouth, Clinodactyly of the 5th finger, Sho...	OMIM:616651
Laurence-Moon Syndrome	Small scrotum, Short stature, Abnormality of the hand, Obesity, Polydactyly, Micropenis	OMIM:245800
Hypogonadism, Male	Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias	OMIM:241100
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Recurrent respiratory infections, Rhizomelia, Anteverted nares, Micromelia...	ORPHA:1842
Chromosome Xp11.23-P11.22 Duplication Syndrome	Prominent nasal bridge, Underdeveloped nasal alae, Precocious puberty, 2-3 toe cutaneous syndacty...	OMIM:300801
Wagro Syndrome	Mandibular prognathia, Proteinuria, Dental crowding, Micrognathia, Obesity, Aniridia, Malar flatt...	OMIM:612469
Microphthalmia, Syndromic 1	Anophthalmia, Bicuspid aortic valve, Abnormal palmar dermatoglyphics, Dental crowding, High, narr...	OMIM:309800
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Wide nose, Underdeveloped nasal alae, Cryptorchidism, Non-midline cleft lip, W...	ORPHA:1252
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Premature ovarian insufficiency, Short stature, High, narrow palate, Split hand, Obesity	OMIM:618124
Abruzzo-Erickson Syndrome	Hypospadias, Short stature, Cleft palate, Coloboma, Radioulnar synostosis	OMIM:302905
Hypomelanosis Of Ito	Syndactyly, Microcephaly, Hypertelorism, Thick lower lip vermilion, Cerebral atrophy, Irregularly...	OMIM:300337
Contractures-Developmental Delay-Pierre Robin Syndrome	Micrognathia, High, narrow palate, Abnormal finger morphology, Glossoptosis, Abnormality of front...	ORPHA:436003
Bardet-Biedl Syndrome 6	Syndactyly, Diabetes mellitus, Hypospadias, External genital hypoplasia, Postaxial polydactyly, O...	OMIM:605231
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Male infertility, Dextrocardia, Asplenia	OMIM:618948
Mckusick-Kaufman Syndrome	Urethral stricture, Glandular hypospadias, High palate, Atrial septal defect, Finger syndactyly, ...	ORPHA:2473
Johnson Neuroectodermal Syndrome	Severe short stature, Choanal atresia, Microcephaly, Carious teeth, Preaxial hand polydactyly, Bu...	ORPHA:2316
Hypomandibular Faciocranial Dysostosis	Recurrent respiratory infections, Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the t...	ORPHA:1790
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis	OMIM:615918
Familial Hyperaldosteronism Type Iii	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres...	ORPHA:251274
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atri...	OMIM:300855
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Foot oligodactyly, Short philtrum, Hypothyroidism, Synostosis of...	ORPHA:3258
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Scapular winging, Lateral ventricular asymmetry, Arachno...	OMIM:616914
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Short stature, Abnormality of the philtrum, Micromelia, Microcep...	ORPHA:1597
Eng-Strom Syndrome	Ventricular septal defect, Camptodactyly of finger, Short stature, Arthritis, Abnormal cardiac se...	ORPHA:1937
Velocardiofacial Syndrome	Unilateral primary pulmonary dysgenesis, Pulmonary artery atresia, Hypoparathyroidism, Short stat...	OMIM:192430
Dubowitz Syndrome	Single transverse palmar crease, Micrognathia, Hypoplasia of the iris, High palate, Clinodactyly ...	OMIM:223370
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Spermatocele, Obstructive azoospermia	OMIM:301060
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Cerebellar vermis hypoplasia, Sagittal craniosynostosis, Dandy-Walker malformation	OMIM:123155
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Hypospadias, Abnormal pericardium morphology, Ventricular sept...	ORPHA:1335
Renpenning Syndrome 1	Mandibular prognathia, Micrognathia, Coloboma, High palate, Short philtrum, Death in childhood, A...	OMIM:309500
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Multicystic kidney dysplasia, Cerebellar vermis hypoplasia, Anteverted n...	ORPHA:1454
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating...	OMIM:615954
Kleeblattschaedel	Hydrocephalus, Proptosis, Elbow ankylosis, Craniosynostosis	OMIM:148800
Retinal Dystrophy And Obesity	Obesity	OMIM:616188
Floating-Harbor Syndrome	Long nose, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Deeply set eye, Humeral pseud...	ORPHA:2044
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Failure to thrive, Microcephaly	ORPHA:26
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Obesity	OMIM:606772
Alexander Disease Type I	Cachexia, Hydrocephalus, Progressive macrocephaly, Abnormal thalamic MRI signal intensity, Abnorm...	ORPHA:363717
Acquired Generalized Lipodystrophy	Proteinuria, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Unicameral bone cyst, Polycys...	ORPHA:79086
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Severe short stature, Micromelia, Microcephaly, Male pseudohe...	ORPHA:1422
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Deep philtrum, High palate, At...	OMIM:115150
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic hypogonadism, ...	ORPHA:465508
Keratoderma Hereditarium Mutilans	Alopecia, Abnormal spinal cord morphology, Cognitive impairment	ORPHA:494
Cowden Syndrome	Abnormal penis morphology, Endometrial carcinoma, Brachydactyly, Short stature, Follicular thyroi...	ORPHA:201
Kaposiform Lymphangiomatosis	Pericardial effusion, Splenomegaly, Pancreatic cysts, Hepatosplenomegaly, Multiple renal cysts, E...	ORPHA:464329
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Micrognathia, Abnormality of the gingiva, Osteopathia striata, Increased axial length of the glob...	ORPHA:513456
Tarp Syndrome	Cerebellar vermis hypoplasia, Single transverse palmar crease, Micrognathia, Glossoptosis, High p...	OMIM:311900
Fanconi Anemia, Complementation Group F	Short stature, Decreased response to growth hormone stimulation test, Pneumonia, Absent thumb, Mi...	OMIM:603467
Intellectual Developmental Disorder, Autosomal Recessive 68	Small for gestational age, Microcephaly, Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bri...	OMIM:618302
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Micromelia, Micrognathia, Renal cyst, Absent or minimally ossified vertebral...	ORPHA:93271
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Wide nose, Everted upper lip vermilion, Anteverted nares, Short stature, Craniosynostosis, Hypert...	OMIM:619056
Carey-Fineman-Ziter Syndrome	Cerebral calcification, Micrognathia, Aplasia of the pectoralis major muscle, Glandular hypospadi...	ORPHA:1358
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypospadias, Ventricular septal defect, Supernumerary nipple, Selective tooth agenesis, Hypoplasi...	OMIM:106260
Joubert Syndrome 8	Hepatomegaly, Obesity, Prolonged neonatal jaundice	OMIM:612291
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Aplasia/hypoplasia of the extremities, Femoral bowing, Anteriorly displaced genita...	OMIM:276820
Congenital Muscular Dystrophy, Fukuyama Type	Ventriculomegaly, Camptodactyly of finger, Hydrocephalus, Dilated cardiomyopathy, Flexion contrac...	ORPHA:272
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Broad metacarpals, Hypo...	ORPHA:56304
Crouzon Syndrome	Choanal atresia, Convex nasal ridge, Hypertelorism, Hypoplasia of the maxilla, Hydrocephalus, Nar...	ORPHA:207
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Miscarriage, Abnormality of the menstrual cycle, Decreased fertility ...	ORPHA:137686
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Short stature, Mic...	ORPHA:2994
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Abnormality of the ut...	ORPHA:857
Specc1L-Related Hypertelorism Syndrome	Ectopic kidney, Orofacial cleft, Atrial septal defect, Clinodactyly of the 5th finger, Advanced e...	ORPHA:1519
Craniofrontonasal Syndrome	Clinodactyly of the 5th finger, Agenesis of corpus callosum, Joint laxity, Hypospadias, Broad hal...	OMIM:304110
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia...	ORPHA:90794
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hypertelorism, Precocious puberty, Preaxial polydactyly, Obesity, Abnormality of neuronal migrati...	ORPHA:163681
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Ventricular septal defect, Dental crowding, Micrognathia, Hyperteloris...	ORPHA:2789
46,Xy Sex Reversal 1	Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute...	OMIM:400044
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Achondrogenesis Type 1B	Severe short stature, Anteverted nares, Micromelia, Micrognathia, Abnormal enchondral ossificatio...	ORPHA:93298
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventricular septal defect, Postaxial polydactyly, Megalencephaly, Abnormally large globe, Hydroce...	OMIM:603387
Stromme Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Bilateral renal hypoplasia, Preaxial polydactyly, Dee...	OMIM:243605
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Congenital hip dislocation, Small for gestational age, Rocker bottom fo...	ORPHA:3078
Lymphedema, Primary, With Myelodysplasia	Hypotelorism, Long fingers, Tapered finger	OMIM:614038
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Atrial septal defect, Short stature, Microcephaly, Patent ductus arteriosus, Hip disl...	OMIM:618005
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Short stature, Microcephaly, Abnormal limb bone morphology, Abnor...	ORPHA:2204
Thakker-Donnai Syndrome	Communicating hydrocephalus, Anteverted nares, Ventricular septal defect, Hypertelorism, Bulbous ...	ORPHA:1780
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Spondyloenchondrodysplasia	Cerebral calcification, Decreased response to growth hormone stimulation test, Bowing of the legs...	ORPHA:1855
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Ventricular septal defect, Craniosynostosis, Microcephaly, Abnormalit...	ORPHA:251038
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Depressed nasal bridge, Tapered...	OMIM:618430
Acrocephalopolydactyly	Hypertelorism, Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose, Brachydactyly	ORPHA:221054
Sweeney-Cox Syndrome	Micrognathia, Bilateral cryptorchidism, High palate, Short philtrum, 2-5 toe syndactyly, Patent f...	OMIM:617746
Joubert Syndrome 18	Joint laxity, Occipital encephalocele, Trident pelvis, Bowing of the long bones, Agenesis of cere...	OMIM:614815
Intellectual Developmental Disorder, Autosomal Recessive 73	Osteopenia, Ventricular septal defect, Single transverse palmar crease, Patent ductus arteriosus,...	OMIM:619717
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Bohring-Opitz Syndrome	Cardiomegaly, Micrognathia, Coloboma, Congenital contracture, Agenesis of corpus callosum, Promin...	ORPHA:97297
Macrocephaly-Intellectual Disability-Autism Syndrome	Multiple lipomas, Hepatic steatosis	ORPHA:210548
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Atrial septal defect, Micropenis, Pachygyria, Hamartoma of tongue, ...	OMIM:263520
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, High palate, Microdo...	ORPHA:536467
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Deviation of the thumb, High palate, Finger syndactyly, Broad hallux phalanx...	ORPHA:93259
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Craniosynostosis, Micrognathia, Hypertelorism, Pylori...	ORPHA:261197
Achondrogenesis Type 1A	Short palm, Multiple rib fractures, Severe short stature, Anteverted nares, Recurrent fractures, ...	ORPHA:93299
Becker Nevus Syndrome	Supernumerary nipple, Micromelia, Hypoplastic labia minora, Abnormal tibia morphology, Rib fusion...	ORPHA:64755
Sonoda Syndrome	Ventricular septal defect, Depressed nasal bridge, Short stature, Narrow mouth, High axial triradius	OMIM:270460
Cerebellofaciodental Syndrome	Ventricular septal defect, Single transverse palmar crease, Short stature, Tapered finger, Hypopl...	OMIM:616202
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity	OMIM:616418
Autosomal Recessive Primary Microcephaly	Thin upper lip vermilion, Short stature, Unilateral renal agenesis, Microcephaly, Growth delay, G...	ORPHA:2512
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio...	OMIM:600348
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Ciliary Dyskinesia, Primary, 39	Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext...	OMIM:618254
Global Developmental Delay With Speech And Behavioral Abnormalities	Thin upper lip vermilion, Joint hypermobility, Supernumerary nipple, Microcephaly, Precocious pub...	OMIM:619243
Combined Oxidative Phosphorylation Deficiency 52	Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Ele...	OMIM:619386
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocatio...	OMIM:607323
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Hypoglycemia, Cardiomegaly	OMIM:614702
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Truncal obesity, Abdominal obesity	OMIM:618160
Burn-Mckeown Syndrome	Mandibular prognathia, Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Underd...	OMIM:608572
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Elevated circ...	OMIM:264700
6Q16 Microdeletion Syndrome	Anteverted nares, Depressed nasal bridge, Tapered finger, Micrognathia, Bulbous nose, Obesity, Ma...	ORPHA:171829
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Fle...	ORPHA:666
Dextrocardia	Meckel diverticulum, Congenital hip dislocation, Dextrocardia, Intestinal malrotation, Abnormal r...	ORPHA:1666
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Depressed nasal bridge, Choanal atresia, Bicuspid aortic valve, Ventricu...	ORPHA:284169
Kinsship Syndrome	Mandibular prognathia, Osteopenia, Single transverse palmar crease, Micrognathia, Downturned corn...	OMIM:619297
Acro-Renal-Mandibular Syndrome	Micrognathia, Abnormal lung lobation, Orofacial cleft, High palate, Short philtrum, Hypoplasia of...	ORPHA:958
Yunis-Varon Syndrome	Congenital hip dislocation, Cerebellar vermis hypoplasia, Single transverse palmar crease, Microg...	OMIM:216340
Larsen Syndrome	Short metatarsal, Shallow orbits, Atrial septal defect, Spina bifida occulta, Hypoplastic cervica...	OMIM:150250
Manitoba Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Broad nasal tip, Bifid nasal tip, Hypertelorism, Anteriorly placed a...	OMIM:248450
Pituitary Gigantism	Mandibular prognathia, Tall stature, Elevated circulating growth hormone concentration, Amenorrhe...	ORPHA:99725
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Decrease...	OMIM:613986
Aicardi Syndrome	Partial agenesis of the corpus callosum, Short philtrum, Chorioretinal coloboma, Aplasia/Hypoplas...	ORPHA:50
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Hydrocephalus, Wide...	OMIM:187600
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Congenital adrenal hyperplasia, Clitoral hypertrophy, Increased serum testoster...	ORPHA:96181
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Failure to thrive, Hepatic steatosis, Decreased liver function	ORPHA:70472
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia	OMIM:616959
Hallermann-Streiff Syndrome	Micrognathia, High, narrow palate, Reduced bone mineral density, Glossoptosis, Rib exostoses, Cli...	ORPHA:2108
Polymicrogyria Due To Tubb2B Mutation	Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal...	ORPHA:300573
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Single transverse palmar crease, Urinary incontinence, Long nose, Downturned ...	OMIM:619522
Paternal Uniparental Disomy Of Chromosome 6	Joint laxity, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Prominent ...	ORPHA:96191
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Abnormal heart morphology, N...	ORPHA:505248
Craniofacioskeletal Syndrome	Micrognathia, Short philtrum, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, A...	OMIM:300712
Immunodeficiency 61	Obesity	OMIM:300310
Chromosome 5Q12 Deletion Syndrome	Long toe, Ventricular septal defect, Prominent nose, Micrognathia, Long fingers, Patent ductus ar...	OMIM:615668
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Microcephaly, Hypertelorism, Hiatus hernia, Stage 5 chronic kidney d...	OMIM:619603
Duplication Of The Pituitary Gland	Encephalocele, Short stature, Abnormality of joint mobility, Microcephaly, Hypertelorism, Supernu...	ORPHA:314621
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Faciodigitogenital Syndrome, Autosomal Recessive	Deep philtrum, High palate, Clinodactyly of the 5th finger, Syndactyly, Vertebral fusion, Antever...	OMIM:227330
Van Esch-O'Driscoll Syndrome	Downturned corners of mouth, Shallow orbits, Atrial septal defect, Clinodactyly of the 5th finger...	OMIM:301030
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Pancreatic fibrosis, Depressed nasal bridge, Postaxial polydactyly, Ventricular septa...	OMIM:615503
Beckwith-Wiedemann Syndrome	Hepatomegaly, Ureteral duplication, Hypoglycemia, Nephroblastoma, Neonatal hypoglycemia, Cardiome...	ORPHA:116
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Supernumerary ni...	OMIM:263750
B4Galt1-Cdg	Thin upper lip vermilion, Small for gestational age, Hypertelorism, Hydrocephalus, Wide nasal bri...	ORPHA:79332
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Bulbous nose, Simplified gyral pattern,...	OMIM:615219
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Flexion contracture, Narrow greater sciatic notch, Widely spaced teeth, Large ili...	OMIM:253220
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Rocker bottom foot, Ventricular septal defect, Microcephaly, Exaggerated cupid'...	OMIM:618506
Zttk Syndrome	Unilateral lung agenesis, Hypoplasia of the maxilla, Flexion contracture, Downturned corners of m...	OMIM:617140
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Ketonuria, Single transverse palmar crease, Renal hypoplasia, Hypotelorism, Increased CSF lactate...	OMIM:619053
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Abnormal lung lobation, Deeply set e...	OMIM:265380
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Long nose, Oligodontia, Short palm, Atrial septal defect, Patent foramen ovale, ...	OMIM:619184
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Anteverted nares, Micrognathia, Hypertelorism, Postnatal growth retardation, Metaphyseal widening...	ORPHA:73230
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Short lingual frenulum, Downturned corners of mouth, Short philtrum, Microdontia, Atrial septal d...	OMIM:617360
Symmetrical Thalamic Calcifications	Cerebral calcification, Failure to thrive, Abnormality of neuronal migration, Microcephaly	ORPHA:1314
Hemimegalencephaly	Abnormal neuron morphology, Pachygyria, Hemimegalencephaly, Gray matter heterotopia, Macrocephaly...	ORPHA:99802
Otospondylomegaepiphyseal Dysplasia	Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone m...	ORPHA:1427
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Thin upper lip vermilion, Osteopenia, Sandal gap, Anteverted nares, Short statu...	OMIM:617877
Familial Atrial Myxoma	Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly	ORPHA:615
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Intestinal malrotation, Radial bowing, Single transverse palmar crease,...	OMIM:617866
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Renal cyst, Fused teeth, High palate, Microdontia, Syndactyly...	OMIM:614091
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin...	OMIM:620303
Momo Syndrome	Delayed eruption of teeth, Hypertelorism, Thick lower lip vermilion, Dental malocclusion, Obesity...	OMIM:157980
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Cardiomegaly	OMIM:618838
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Prominent nose, Long nose, Micrognathia, Atrial septal defect, Clinodactyly o...	ORPHA:3047
Okamoto Syndrome	Tented upper lip vermilion, Urinary incontinence, Abnormally large globe, Primum atrial septal de...	ORPHA:2729
Pitt-Hopkins Syndrome	Single transverse palmar crease, Short metatarsal, Finger clinodactyly, Deeply set eye, Short phi...	ORPHA:2896
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Abnormality of dental color, Hyperphosphaturia, Short stature, Recurrent fractures, P...	OMIM:163200
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Death in infancy, Ventricular septal defect, Mesomelic/rhizomelic limb shor...	ORPHA:1354
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Bicuspid aortic valve, Single transverse palmar crease, 3-5 toe syndactyly, Atrial septal defect,...	OMIM:300707
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy...	OMIM:617100
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria	ORPHA:251004
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Tracheobronchomalacia, Dee...	OMIM:613458
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Congenital hip dislocation, Anteverted nares, Short stature, Limited elbow moveme...	OMIM:615065
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Abnormally large globe, Hydrocephalus, Flexion contracture, Coloboma, Hypoplasia of...	OMIM:615249
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Wide nose, Short lingual frenulum, Supernumerary nipple, Bifid uterus, Abnormal repro...	ORPHA:1521
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postaxial polydactyly, Short...	OMIM:617102
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Abnormal cerebral white matter mor...	ORPHA:352682
Laron Syndrome	Decreased serum insulin-like growth factor 1, Severe short stature, Short long bone, Limb undergr...	OMIM:262500
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Deep philtrum, High palate, Widely spaced teeth, Atrial septal defect, Patent foramen ovale, Bifi...	OMIM:617506
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,...	ORPHA:300373
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Male infertility, Premature ovarian insufficiency, C...	ORPHA:79239
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate, Micrognathia	ORPHA:718
C Syndrome	Micromelia, Micrognathia, High palate, Biparietal narrowing, Clinodactyly of the 5th finger, Bila...	ORPHA:1308
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Single transverse palmar crease, Micrognathia, Downturned corners of mouth, Choan...	OMIM:620186
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Spina bifida, Cryptorchidism, Myelomeningocele, ...	ORPHA:1756
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Cerebral calcifi...	ORPHA:73246
Albers-Schönberg Osteopetrosis	Osteomyelitis, Short stature, Recurrent fractures, Abnormality of the dentition, Carious teeth, M...	ORPHA:53
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Depressed nasal ridge, Tibial bowing, Short palm, Abnor...	ORPHA:175
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Single transverse palmar crease, Micrognathia, Oligodontia, High palate, Short p...	OMIM:617061
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bron...	OMIM:620197
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
Autosomal Dominant Popliteal Pterygium Syndrome	Bifid scrotum, Finger syndactyly, Thin upper lip vermilion, Small scrotum, Toe syndactyly, Choana...	ORPHA:1300
Achondroplasia	Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great...	OMIM:100800
Femoral-Facial Syndrome	Short fourth metatarsal, Maternal diabetes, Limited elbow movement, Micrognathia, Micropenis, Sho...	OMIM:134780
Glutamine Deficiency, Congenital	Recurrent respiratory infections, Anteverted nares, Depressed nasal bridge, Micromelia, Flexion c...	OMIM:610015
Adrenomyodystrophy	Failure to thrive, Hepatic steatosis	ORPHA:977
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Mandibular prognathia, Syndactyly, Depressed nasal bridge, Prominent nasal bridge, Abnormality of...	OMIM:618505
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Ulbright-Hodes Syndrome	Maternal diabetes, Micrognathia, High palate, Phocomelia, Abnormal penis morphology, Short metaca...	ORPHA:3404
Desbuquois Syndrome	Severe short stature, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Coxa val...	ORPHA:1425
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Abnorma...	ORPHA:449395
Phacoanaphylactic Uveitis	Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo...	ORPHA:209959
Tatton-Brown-Rahman Syndrome	Ventriculomegaly, Everted upper lip vermilion, Anteverted nares, Optic nerve hypoplasia, Ventricu...	OMIM:615879
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	OMIM:201450
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Short stature, Broad nasal tip, Bifid nasal tip, Hypertelorism, Cle...	OMIM:300484
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Cle...	ORPHA:2631
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Ocular anterior segment dysge...	OMIM:614195
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Hypospadias, Bowed humerus, Depressed nasal bridge, Short lingual ...	OMIM:619479
Perrault Syndrome 2	Streak ovary, Amenorrhea	OMIM:614926
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Bloom Syndrome	Bronchitis, Micrognathia, Stomach cancer, Male infertility, Premature ovarian insufficiency, Resp...	ORPHA:125
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Recurrent respiratory infections, Small scrotum, Toe syndactyly, Abnormal dent...	ORPHA:3253
Mowat-Wilson Syndrome	Bifid scrotum, Large basal ganglia, Deeply set eye, Widely spaced teeth, Chorioretinal coloboma, ...	OMIM:235730
Woodhouse-Sakati Syndrome	Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H...	OMIM:241080
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased hepatic echo...	OMIM:261680
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Short stature, Coxa valga, Hypoplasia of the maxilla, Hypertelorism, Hydrocephalu...	OMIM:109120
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Chronic gastritis, Osteopenia, Bicuspid aortic valve, Single transverse pa...	OMIM:150230
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Deeply set eye, Short palm, Atrial septal defect, Clinodactyly of the 5th fi...	ORPHA:261330
Wolfram Syndrome 1	Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Limited mobility of proxi...	OMIM:222300
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia, Protruding tongue	ORPHA:53351
Mucopolysaccharidosis Type 1	Sinusitis, Widely spaced teeth, Microdontia, Thick nasal alae, Depressed nasal bridge, Short stat...	ORPHA:579
Isolated Osteopoikilosis	Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ...	ORPHA:166119
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Micr...	OMIM:224400
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Cortical dysplasia, Atrial septal defect, Pachygyria, Encephalocele, Cleft...	OMIM:100300
Neurodevelopmental Disorder With Language Delay And Seizures	Diffuse cerebral atrophy, Ventricular septal defect, Cryptorchidism, Growth delay, Hypothalamic h...	OMIM:619908
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney	OMIM:613091
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Severe short stature, ...	ORPHA:1240
Tenorio Syndrome	Mandibular prognathia, Osteopenia, Hypoinsulinemia, Wide nose, Anteverted nares, Joint laxity, Hy...	OMIM:616260
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Multicystic kidney dysplasia, Aortic valve prolapse, Anteverted nar...	OMIM:619980
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovag...	ORPHA:3016
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Snail-like ilia, Flat acet...	OMIM:269250
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Thin upper lip vermilion, Depressed nasal bridge, Joint hypermobility, Prominent nose, Carious te...	OMIM:620191
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Dental crowding, Rectal prolapse, Short metatarsal, Deeply set eye, High palate, Short metacarpal...	OMIM:617157
Bardet-Biedl Syndrome 3	External genital hypoplasia, Postaxial polydactyly, Renal hypoplasia, Obesity, Brachydactyly	OMIM:600151
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Hypoplasia of the max...	ORPHA:397973
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Microdontia, Bifid uvula,...	OMIM:129400
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Neonatal short-limb short stature, Severe limb shortening, Radial bowing, Rhizomelia,...	OMIM:151210
Bloom Syndrome	Syndactyly, Small for gestational age, Decreased fertility in females, Microcephaly, Cryptorchidi...	OMIM:210900
Tsh-Secreting Pituitary Adenoma	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy...	ORPHA:91347
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Pulmonic stenosis, Protruding tongue	OMIM:614325
Corpus Callosum, Partial Agenesis Of, X-Linked	Aganglionic megacolon, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, High...	OMIM:304100
Cole-Carpenter Syndrome 2	Microretrognathia, Osteopenia, Short stature, Recurrent fractures, Hypertelorism, Postnatal growt...	OMIM:616294
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, Microphthalmia, Type II lissencephaly	OMIM:614830
Intellectual Developmental Disorder, Autosomal Dominant 65	Thick upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Single transverse palmar...	OMIM:619320
Tetrasomy 15Q26	Microretrognathia, Arachnodactyly, Hypertelorism, Patent ductus arteriosus, Hydrocephalus, Hypopl...	OMIM:614846
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Chorioretinal coloboma, Iris coloboma, F...	ORPHA:2092
Frontal Encephalocele	Encephalocele, Cerebral calcification, Spina bifida, Hypertelorism, Hydrocephalus, Aplasia/Hypopl...	ORPHA:1931
Wolcott-Rallison Syndrome	Metaphyseal dysplasia, Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Short s...	ORPHA:1667
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Small for gestational age, Short stature, Precocious puberty, Insulin-resi...	OMIM:262190
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Spleno...	OMIM:256550
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morphology, Hydrocephal...	ORPHA:974
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent respiratory infections, Depressed nasal bridge, Ventricular septal defect, Short statur...	OMIM:619575
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Adenomatous colonic polyposis, Agenesis of corpus callosum, Colon cancer	OMIM:619101
Robinow Syndrome, Autosomal Recessive 2	Bicuspid aortic valve, Micrognathia, Prominent fingertip pads, Broad hallux, Anteverted nares, Sh...	OMIM:618529
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response to growth h...	ORPHA:96179
Hydatidiform Mole	Menometrorrhagia, Enlarged uterus, Anemia	ORPHA:99927
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Bilateral single transverse palmar creases, Ventricular septal defect, Microcephaly, Underdevelop...	ORPHA:2516
Alexander Disease	Death in infancy, Hydrocephalus, Progressive macrocephaly, Death in adolescence, Death in childho...	OMIM:203450
Odontochondrodysplasia	Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Depressed nasal bridge, Sh...	ORPHA:166272
Kennedy Disease	Decreased fertility, Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction	ORPHA:481
Hypocalcemic Vitamin D-Dependent Rickets	Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Femoral bowing, Tibial bowi...	ORPHA:289157
Pontocerebellar Hypoplasia, Type 11	Recurrent respiratory infections, Short stature, Microcephaly, Hypoplasia of the pons, Bulbous no...	OMIM:617695
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Flexion contracture, Downturned corners ...	ORPHA:487796
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Baralle-Macken Syndrome	Obesity	OMIM:619255
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Ventricular septal defect, Short stature, Situs inversus totalis, Cryptorchidi...	OMIM:249270
Stormorken Syndrome	Short stature, Epistaxis, Subarachnoid hemorrhage, Prominent nose, Hypotelorism, Stroke-like epis...	OMIM:185070
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Median cleft lip, Aplasia/Hypoplasia of the distal phalanges o...	ORPHA:1234
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S...	OMIM:616950
Oeis Complex	Congenital hip dislocation, Epispadias, Ambiguous genitalia, female, Anteriorly placed anus, Ambi...	OMIM:258040
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Ventricular septal defect, Prominent nasal bridge, Aganglionic megacolon, Tapered finger, Bulbous...	OMIM:613870
Ollier Disease	Micromelia, Joint stiffness, Precocious puberty, Osteolysis, Abnormal metaphysis morphology	ORPHA:296
Achondrogenesis	Severe short stature, Anteverted nares, Micromelia, Micrognathia, Abnormal enchondral ossificatio...	ORPHA:932
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Hyperextensibility of the finger joints, Recurrent respiratory infections, Prom...	OMIM:618356
Hurler Syndrome	Endocardial fibroelastosis, Death in infancy, Anteverted nares, Depressed nasal bridge, Short sta...	ORPHA:93473
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Ventricular septal defect, Supernumerary nipple, Microcephaly, Cryptorchidism, Postaxial hand pol...	ORPHA:2519
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:613070
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Cortical dysplasia, Hypoplasia of the brain...	OMIM:615287
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Broad ribs, Depressed nasal br...	OMIM:253200
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans...	OMIM:256810
Craniofaciofrontodigital Syndrome	Osteopenia, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Large for gestational a...	ORPHA:363705
Heart And Brain Malformation Syndrome	Cerebellar vermis hypoplasia, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, ...	OMIM:616920
Orofaciodigital Syndrome Type 1	Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t...	ORPHA:2750
Coffin-Siris Syndrome 7	Thin upper lip vermilion, Wide nose, Depressed nasal bridge, Anteverted nares, Bicuspid aortic va...	OMIM:618027
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Peho Syndrome	Recurrent respiratory infections, Anteverted nares, Tapered finger, Microcephaly, Open mouth, Hyd...	ORPHA:2836
Giant Cell Arteritis	Glossitis, Pericarditis, Renal insufficiency, Epistaxis, Abnormal pleura morphology, Joint stiffn...	ORPHA:397
Adams-Oliver Syndrome 4	Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ...	OMIM:615297
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Short stature, Osteoarthritis, Arthralgia of the hip, ...	ORPHA:166002
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of ...	OMIM:619950
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Mandibular prognathia, Large for gestational age, Diffuse white matt...	ORPHA:457359
Primrose Syndrome	Cerebral calcification, Bilateral cryptorchidism, Hypoplasia of the maxilla, Flexion contracture,...	OMIM:259050
Bone Marrow Failure Syndrome 5	Short stature, Microcephaly, Growth delay, Hypogonadism, Pulmonary fibrosis, Testicular atrophy, ...	OMIM:618165
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Proteinuria, Abnormal palmar dermatoglyphics, Microcephaly, Postnatal growth retar...	ORPHA:2728
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Malignant Migrating Focal Seizures Of Infancy	Aortopulmonary collateral arteries, Microcephaly, Precocious puberty, Cerebral atrophy, Failure t...	ORPHA:293181
Cree Mental Retardation Syndrome	Bifid scrotum, Aplasia/Hypoplasia of the ribs, Hypospadias, Rocker bottom foot, Cleft soft palate...	OMIM:606851
Congenital Muscular Dystrophy Without Intellectual Disability	Microcephaly, Achilles tendon contracture, Gray matter heterotopia, Abnormal cerebral white matte...	ORPHA:370980
Renal Cysts And Diabetes Syndrome	Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnorm...	OMIM:137920
Intellectual Developmental Disorder, Autosomal Dominant 64	Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Dep...	OMIM:619188
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Tented upper lip vermilion, Periventricular heterotopia, Hydrocephalus, M...	OMIM:618476
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Choanal atresia, Absent external genitalia, Micrognathia, Cleft...	OMIM:273395
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Dental crowding, Downturned corners of mouth, Atrial se...	ORPHA:261323
Larsen Syndrome	Finger syndactyly, Brachydactyly, Depressed nasal bridge, Short stature, Craniosynostosis, Hypert...	ORPHA:503
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Hypertelorism, Conica...	OMIM:619143
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	ORPHA:231580
Meckel Syndrome, Type 6	Abnormal internal genitalia, Occipital encephalocele, Absent gallbladder, Cleft upper lip, Hydroc...	OMIM:612284
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Disproportionate tall stature, Failure to thrive, Hepatic steatosis, Pancreatiti...	OMIM:236200
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h...	OMIM:252920
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Large for gestational age, Micrognathia, High palate, Atrial septal defect,...	OMIM:614080
Charlie M Syndrome	Finger syndactyly, Micrognathia, Hypertelorism, Narrow mouth, Non-midline cleft lip, Split hand, ...	ORPHA:1406
Exstrophy-Epispadias Complex	Bifid scrotum, Urinary incontinence, Epispadias, Absent penis, Vesicoureteral reflux, Bladder exs...	ORPHA:322
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Irregular dentition, Pericardial lymphangiectasia, Depressed nasal bridge, Hypertelor...	OMIM:616006
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Hypertelorism, Abnormal ossification involving the femoral...	ORPHA:1190
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, High palat...	ORPHA:570
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Anterior pituitary hypoplasia, Aqueductal stenosis, Secundum atrial septal defect, Pr...	OMIM:619534
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Obesity, Increased intramyoc...	ORPHA:98907
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones...	OMIM:215045
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Reduced bone mineral den...	ORPHA:2911
Bardet-Biedl Syndrome 9	Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Irregular men...	OMIM:615986
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating alanine aminotransferase concentration, Cholestasis, Portal fibrosis, Failur...	OMIM:614300
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
White-Sutton Syndrome	Joint laxity, Thin upper lip vermilion, Depressed nasal bridge, Short stature, Microcephaly, Hypo...	ORPHA:468678
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Recurrent respiratory infections, Thin upper lip vermilion, Depressed nasal bridge, Single transv...	ORPHA:466950
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd...	ORPHA:91350
Spermatogenic Failure 2	Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia	OMIM:108420
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Hypospadias, Ventricular septal defect, Proxim...	ORPHA:2438
Dysostosis, Stanescu Type	Cerebral calcification, Micromelia, Hypoplasia of the maxilla, Increased bone mineral density, Sh...	ORPHA:1798
Ververi-Brady Syndrome	Smooth philtrum, Thin upper lip vermilion, Wide nose, Short stature, Prominent nose, Microcephaly...	OMIM:617982
Phakomatosis Pigmentokeratotica	Spina bifida, Precocious puberty, Cryptorchidism, Unilateral renal hypoplasia, Coloboma, Pheochro...	ORPHA:2874
Dandy-Walker Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr...	OMIM:220200
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Neoplasm of the ...	ORPHA:454840
Obesity Due To Sim1 Deficiency	Obesity	ORPHA:369873
Methylcobalamin Deficiency Type Cble	Syndactyly, Microcephaly, Postnatal growth retardation, Hemolytic-uremic syndrome, Hydrocephalus,...	ORPHA:2169
Meacham Syndrome	Hypoplasia of penis, Abnormal lung lobation, Conotruncal defect, Abnormal fallopian tube morpholo...	ORPHA:3097
Neonatal Adrenoleukodystrophy	Anteverted nares, Short stature, Primary adrenal insufficiency, Wide nasal bridge, Abnormality of...	ORPHA:44
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ...	OMIM:300280
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Cerebellar vermis hypoplasia, Generalized joint laxity, C...	ORPHA:2834
Craniosynostosis 2	Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Hypotelorism, Tri...	OMIM:604757
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Short stature, Microcephaly, Abnormality of the dentition, Limitation of joint mobili...	ORPHA:177
Skraban-Deardorff Syndrome	Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Micrognathia, Absent cupid's...	OMIM:617616
3-Methylglutaconic Aciduria, Type V	Microvesicular hepatic steatosis, Failure to thrive, Elevated circulating alanine aminotransferas...	OMIM:610198
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Absent nipple, Depressed nasal bridge, Hypertelorism, Hyd...	OMIM:104350
Pelger-Huet Anomaly	Depressed nasal bridge, Ventricular septal defect, Hypertelorism, Abnormality of the dentition, U...	OMIM:169400
Phelan-Mcdermid Syndrome	Micrognathia, Deeply set eye, High palate, Widely spaced teeth, Vesicoureteral reflux, Clinodacty...	OMIM:606232
Arboleda-Tham Syndrome	Mandibular prognathia, Bilateral cryptorchidism, Secundum atrial septal defect, Downturned corner...	OMIM:616268
Fraser Syndrome 3	Hypoplasia of penis, Small scrotum, Wide nose, Micrognathia, Short toe, Hydrocephalus, Abnormal l...	OMIM:617667
Combined Oxidative Phosphorylation Deficiency 25	Smooth philtrum, Syndactyly, Anteverted nares, Depressed nasal bridge, Short stature, Hypertelori...	OMIM:616430
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle weakness, Hydroc...	ORPHA:99947
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Malar flattening, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Short...	OMIM:118651
Nemaline Myopathy 9	Ventricular septal defect, Micrognathia, Cleft palate, High palate, Arthrogryposis multiplex cong...	OMIM:615731
Interstitial Lung And Liver Disease	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:615486
Ehlers-Danlos Syndrome, Vascular Type	Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Periodontitis,...	OMIM:130050
Lhermitte-Duclos Disease	Hydrocephalus, Ovarian neoplasm, Macroglossia, Hand polydactyly, Macrocephaly, Polymicrogyria, Ne...	ORPHA:65285
Timothy Syndrome	Ventricular septal defect, Hypoglycemia, Cardiomegaly, Tetralogy of Fallot, Patent foramen ovale	OMIM:601005
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent respiratory infections, Ventricular septal defect, Short stature, Joint hypermobility, ...	OMIM:620210
Chylomicron Retention Disease	Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Failure to thrive, Hepati...	ORPHA:71
Holoprosencephaly 4	Median cleft lip, Depressed nasal bridge, Median cleft lip and palate, Absent nasal septal cartil...	OMIM:142946
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ...	ORPHA:91355
Neurofibromatosis Type 1	Short stature, Recurrent fractures, Joint stiffness, Abnormality of the endocrine system, Cryptor...	ORPHA:636
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Depressed nasal bridge, Joint...	OMIM:618590
Mody	Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin-resistant diabetes melli...	ORPHA:552
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Intrahe...	OMIM:617093
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:369929
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Tracheomalacia, Micrognathia, Hypertelorism, Ectopic kidney, Hydroceph...	ORPHA:268249
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Joint laxity, Hydrocephalus, Tall stature	OMIM:236660
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Hypertelorism, Single naris, Renal cyst, Hy...	OMIM:615636
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Short stature, Achilles tendon contracture, Elbow flexion contracture, Abnormality of neuronal mi...	OMIM:608840
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Stiff neck, Cardiomegaly, Micrognathia, Narrow palat...	OMIM:617022
Subependymal Nodular Heterotopia	Occipital encephalocele, Partial agenesis of the corpus callosum, Meningocele, Myelomeningocele, ...	ORPHA:101030
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Depressed nasal bridge, Malar flattening, Hypertelorism, Scler...	OMIM:269500
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypospadias, Ventricular septal defect, Hypertelorism, Cleft upper lip, Cryptorchidism, Patent du...	OMIM:600460
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Choanal atresia, Hypertel...	OMIM:603457
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, Abnormality of the ...	ORPHA:3152
Limb Body Wall Complex	Cutaneous finger syndactyly, Atrial septal defect, Aplasia of the proximal phalanges of the hand,...	ORPHA:2369
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly, Hypertelorism, Complete atrioventricular canal defect, Doubl...	OMIM:217095
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Single transverse palmar crease, Atrial septal defect, Clinodactyly of the...	ORPHA:459070
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Microcephaly, Micrognathia, Hydrocephalus, Cleft palate, Hypoplasia of the brainstem, Cerebellar ...	OMIM:225790
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Sex reversal, Adrenal gland agenesis, Hypospadias, Ovotestis	OMIM:611812
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Car...	OMIM:201475
Kagami-Ogata Syndrome	Atrial septal defect, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Coxa v...	OMIM:608149
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Bicuspid aortic valve, Microcephaly, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hyp...	OMIM:615599
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Periventricular Nodular Heterotopia 1	Syndactyly, Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Abnormality of ...	OMIM:300049
Alpha-N-Acetylgalactosaminidase Deficiency	Oligosacchariduria, Cardiomegaly	ORPHA:3137
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Arachnodactyly, High, narrow palate, Hydrocephalus, Joint hyperflexibility, Disproportionate tall...	ORPHA:2181
Pseudopseudohypoparathyroidism	Short stature, Short distal phalanx of the 3rd finger, Abnormality of the endocrine system, Ectop...	ORPHA:79445
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
X Small Rings	Bicuspid aortic valve, Reduced bone mineral density, Lower limb undergrowth, Clinodactyly of the ...	ORPHA:96201
Transaldolase Deficiency	Depressed nasal bridge, Small for gestational age, Ventricular septal defect, Patent ductus arter...	OMIM:606003
Spastic Paraplegia 11, Autosomal Recessive	Urinary incontinence, Thenar muscle atrophy, Obesity, Urinary urgency, Hypoplasia of the corpus c...	OMIM:604360
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation	ORPHA:3214
Houge-Janssens Syndrome 1	Congenital hip dislocation, Hypertelorism, Pyloric stenosis, Hydrocephalus, Deeply set eye, Macro...	OMIM:616355
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Short stature, Coloboma, Microphthalmia, Clinodactyly, Iris coloboma, Brachydactyly	OMIM:610023
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ...	OMIM:619949
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Severe short stature, Abnormal heart valve morphology, Short stature, ...	OMIM:309900
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Cleft upper lip, Cleft palate, Microphthalmia, Agenesis of corpus callosum	OMIM:614402
Crouzon Syndrome With Acanthosis Nigricans	Choanal atresia, Craniosynostosis, Hypertelorism, Hydrocephalus, Proptosis	OMIM:612247
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tapered finger, Thick low...	OMIM:619854
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Syndactyly, Short stature, Microcephaly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bon...	OMIM:600384
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Death in infancy, Cerebellar vermis hypoplasia, Ventricular septal defect, Depressed...	OMIM:616901
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Elevated circulating thyroid-stimulating hormone concentration, Atrial septal...	ORPHA:209905
Scimitar Syndrome	Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa...	ORPHA:185
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Short stature, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossif...	OMIM:620269
Teebi-Shaltout Syndrome	Single transverse palmar crease, High, narrow palate, Oligodontia, Prominent palatine ridges, Cau...	OMIM:272950
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se...	ORPHA:206484
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Microcephaly, Micrognathia, ...	OMIM:616038
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever...	ORPHA:40366
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Ventricular septal defect, Tongue fasciculations, Death in chil...	OMIM:253300
Ataxia-Oculomotor Apraxia Type 4	Obesity	ORPHA:459033
Jeune Syndrome	Renal insufficiency, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Abnor...	ORPHA:474
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Choreoacanthocytosis	Caudate atrophy, Temporomandibular joint crepitus, Protruding tongue, Abnormal putamen morphology...	ORPHA:2388
Peroxisome Biogenesis Disorder 8A (Zellweger)	Epiphyseal stippling, Glossoptosis, Ventricular septal defect, Death in infancy	OMIM:614876
Shox-Related Short Stature	Short stature, Micrognathia, Madelung deformity, Obesity, Tibial bowing, Short foot, Genu valgum,...	ORPHA:314795
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventri...	ORPHA:500095
Bardet-Biedl Syndrome 20	Proteinuria, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe...	OMIM:619471
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Ventricular septal defect, ...	OMIM:600987
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Anteverted nares, Short stature, Underdeveloped nasal alae, Meningo...	ORPHA:2031
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Deeply set eye, Kne...	OMIM:601559
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Microlissencephaly-Micromelia Syndrome	Hypoparathyroidism, 11 pairs of ribs, Bilateral single transverse palmar creases, Micromelia, Abn...	ORPHA:50810
Muenke Syndrome	Tarsal synostosis, Hypertelorism, High, narrow palate, Hydrocephalus, Macrocephaly, Cone-shaped e...	ORPHA:53271
Noonan Syndrome 2	Relative macrocephaly, Atrial septal defect, Abnormal coronary artery origin, Mitral stenosis, Ve...	OMIM:605275
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous...	ORPHA:93322
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hepatic steatosis, Hepatosplenomegaly	OMIM:619013
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Scarring, Hepatocellular carcinoma, Portal inflam...	ORPHA:101330
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tib...	OMIM:241530
Pettigrew Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Cerebral calcification, Microcephaly, Aquedu...	OMIM:304340
Omodysplasia 1	Micrognathia, Limited elbow flexion, Atrial septal defect, Short tibia, Rhizomelia, Increased fib...	OMIM:258315
9P13 Microdeletion Syndrome	Microretrognathia, Anteverted nares, External genital hypoplasia, Short stature, Joint stiffness,...	ORPHA:324313
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Obesity, Cholestasis	OMIM:609734
3Mc Syndrome 2	Prominence of the premaxilla, Hypospadias, Prominent nasal bridge, Limited elbow movement, Hypert...	OMIM:265050
Esophageal Atresia	Maternal diabetes, Bronchitis, Laryngotracheomalacia, Coloboma, Barrett esophagus, Abnormal exter...	ORPHA:1199
Serkal Syndrome	Abnormal penis morphology, Ventricular septal defect, Hypospadias, Malrotation of small bowel, Or...	ORPHA:139466
Idiopathic Panuveitis	Conjunctival hyperemia, Cataract, Choroidal neovascularization, Posterior synechiae of the anteri...	ORPHA:280921
Bardet-Biedl Syndrome 12	Hydroureter, Postaxial hand polydactyly, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Posta...	OMIM:615989
Hydrolethalus Syndrome 2	Micrognathia, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foo...	OMIM:614120
Fanconi Anemia, Complementation Group A	Male infertility, Hypergonadotropic hypogonadism, Small for gestational age, Short stature, Absen...	OMIM:227650
Lumbar Syndrome	Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Vesicou...	ORPHA:83628
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Pseudohypoparathyroidism, Type Ib	Obesity	OMIM:603233
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Obesity	ORPHA:412
Cranioectodermal Dysplasia 2	Micrognathia, Renal cyst, Fused teeth, High palate, Widely spaced teeth, Atrial septal defect, Mi...	OMIM:613610
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Hypertrophic cardiomyopathy, Enl...	OMIM:252500
Hypophosphatasia, Infantile	Micromelia, Bowing of the legs, Intracranial hemorrhage, Nephrocalcinosis, Unossified vertebral b...	OMIM:241500
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Single transverse palmar crease, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Kury-Isidor Syndrome	Finger syndactyly, Tented upper lip vermilion, Anteverted nares, Rocker bottom foot, Proximal pla...	OMIM:619762
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Fused labia minora, Micrognathia, Ambiguous genitalia, female, Prim...	ORPHA:2975
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft...	ORPHA:3104
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m...	ORPHA:314478
Retinal Dystrophy With Leukodystrophy	Cleft palate, Progressive microcephaly, Hypotelorism	OMIM:618863
Giant Axonal Neuropathy	Abnormal hand morphology, Abnormal pituitary gland morphology, Genu valgum, Talipes equinovarus, ...	ORPHA:643
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Thin upper lip vermilion, Overriding aorta, Depressed nasal bridge, Ventricular septal defect, Br...	OMIM:601927
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy, Cerebral atrophy	OMIM:160900
Retinitis Pigmentosa 51	Obesity	OMIM:613464
Pontocerebellar Hypoplasia Type 7	Depressed nasal bridge, Olivopontocerebellar hypoplasia, Abnormal scrotal rugation, Cryptorchidis...	ORPHA:284339
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Dental crowding, Micrognathia, Achilles tendon contracture, Os...	OMIM:620351
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Elevated circul...	OMIM:300972
Phaver Syndrome	Broad hallux phalanx, Depressed nasal bridge, Camptodactyly of finger, Ventricular septal defect,...	ORPHA:2876
Whipple Disease	Pericarditis, Cachexia, Malabsorption, Myocarditis, Hydrocephalus, Arthritis, Proptosis, Erectile...	ORPHA:3452
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t...	ORPHA:94066
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Ectopic kidney, V...	OMIM:164210
Somatomammotropinoma	Mandibular prognathia, Dysmenorrhea, Osteoarthritis, Widely spaced teeth, Pituitary prolactin cel...	ORPHA:314769
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod...	OMIM:608670
3-Hydroxyisobutyric Aciduria	Microcephaly, Congenital intracerebral calcification, Abnormality of neuronal migration, Aminoaci...	OMIM:236795
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Obesity	ORPHA:411515
Noonan Syndrome 1	Micrognathia, High, narrow palate, High palate, Atrial septal defect, Male infertility, Hypospadi...	OMIM:163950
Adrenal Hypoplasia, Congenital	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Renal sa...	OMIM:300200
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Holoprosencephaly, Semilobar, With Craniosynostosis	Coxa valga, Hypoplastic vertebral bodies, Semilobar holoprosencephaly, Lambdoidal craniosynostosi...	OMIM:601370
20P13 Microdeletion Syndrome	Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Failure to thrive in inf...	ORPHA:313781
Multifocal Atrial Tachycardia	Ventricular septal defect, Cryptorchidism, Hypothyroidism, Pulmonic stenosis, Atrial septal defec...	ORPHA:3282
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Villous atrophy, Hypogonadotropic hypogonadism, Malabsorpti...	OMIM:600955
Hsd10 Disease, Infantile Type	Hypoglycemia, Cardiomegaly, Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine ...	ORPHA:391428
Fanconi Anemia, Complementation Group C	Hypergonadotropic hypogonadism, Small for gestational age, Ventricular septal defect, Absent thum...	OMIM:227645
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Anteverted nares, Depres...	ORPHA:1458
Citrullinemia, Type Ii, Neonatal-Onset	Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ...	OMIM:605814
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu...	ORPHA:228308
Xylt1-Cdg	Relative macrocephaly, Joint laxity, Short stature, Coxa valga, Microcephaly, Flared metaphysis, ...	ORPHA:370930
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Mild postnatal growth retardation, Proximal femo...	ORPHA:168549
Attrv122I Amyloidosis	Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R...	ORPHA:85451
Intermediate Uveitis	Anterior uveitis, Posterior synechiae of the anterior chamber, Cataract, Band keratopathy	ORPHA:279914
Spermatogenic Failure 6	Globozoospermia, Decreased acrosin in sperm head, Male infertility	OMIM:102530
Diamond-Blackfan Anemia 21	Hallux valgus, Sandal gap, Short stature, Tapered finger, Microcephaly, Preaxial hand polydactyly...	OMIM:620072
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Cerebellar vermis hypoplasia, Severe short stature, Micromelia, Microcephaly, M...	OMIM:600092
X-Linked Intellectual Disability, Stevenson Type	Obesity, Tall stature	ORPHA:85325
Chromosome 3Q29 Duplication Syndrome	Microcephaly, Abnormally large globe, Bulbous nose, Obesity, Wide nasal bridge, Multiple palmar c...	OMIM:611936
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan...	ORPHA:2137
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal d...	ORPHA:457279
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Intestinal malrotation, Overlapping toe, Ventricular septal defect, Cerebral hemorrhage, Microcep...	OMIM:616682
Vater/Vacterl Association	Occipital encephalocele, Abnormal nasopharynx morphology, Ectopic kidney, Preaxial polydactyly, T...	OMIM:192350
Lymphoid Interstitial Pneumonia	Hepatomegaly, Enlarged kidney	ORPHA:79128
Thanatophoric Dysplasia, Type Ii	Ventriculomegaly, Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped cos...	OMIM:187601
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencephalopathy, Hypoplasia of...	OMIM:615181
Tetraamelia Syndrome 2	Microretrognathia, Absent nipple, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pul...	OMIM:618021
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Hermansky-Pudlak Syndrome 10	Recurrent respiratory infections, Microcephaly, Abnormal pulmonary interstitial morphology, Cereb...	OMIM:617050
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Micrognathia, Joint sti...	ORPHA:1801
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Bicuspid aortic valve, Deep philtrum, Aspiration pneumonia, Atrial septal defect, Ves...	ORPHA:438213
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber	OMIM:618880
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nose, Depressed nasal bridge, Ventricular septal defect, Short stature, Broad nasal tip, Lon...	OMIM:619995
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Tracheomalacia, Micrognathia, Hypertelorism, ...	OMIM:612561
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Ankylosis, Short foot, Short palm, Clinodactyly, Campt...	OMIM:615170
Congenital Rubella Syndrome	Atrial septal defect, Ventricular septal defect, Short stature, Microcephaly, Patent ductus arter...	ORPHA:290
Refsum Disease, Classic	Cardiomyopathy, Abnormal renal physiology, Cardiomegaly	OMIM:266500
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Anteverted nares, Microcephaly, Micrognathia, Postnatal growth retardation...	ORPHA:2306
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Cerebral atrophy, Coarct...	OMIM:618164
Alexander Disease	Osteopenia, Diabetes mellitus, Cerebral calcification, Megalencephaly, Precocious puberty, Aquedu...	ORPHA:58
Woods Syndrome	Ventricular septal defect, Single transverse palmar crease, Supernumerary nipple, 3-4 finger cuta...	OMIM:615236
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Toe syndactyly, Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Short stature,...	OMIM:619657
Noonan Syndrome 9	Hydroureter, Ventricular septal defect, Short stature, Hypertelorism, Cryptorchidism, Coarctation...	OMIM:616559
Weiss-Kruszka Syndrome	Anteverted nares, Single transverse palmar crease, Proximal placement of thumb, Bicuspid aortic v...	OMIM:618619
Cardiospondylocarpofacial Syndrome	Pseudoepiphyses, Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, Joint laxity,...	OMIM:157800
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	ORPHA:369840
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hepatic steatosis, Hepatic necrosis	OMIM:231530
Acromegaly	Mandibular prognathia, Dysmenorrhea, Osteoarthritis, Wide penis, Widely spaced teeth, Pituitary p...	ORPHA:963
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow...	ORPHA:1423
Idiopathic Intracranial Hypertension	Obesity	ORPHA:238624
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, High, narrow palate, Abnormality of the gingiva, Osteoarthritis, Ging...	ORPHA:286
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Joint laxity, Anteverted nares, Depressed nasal bridge, Bicuspid aortic valve, Microcephaly, Hype...	OMIM:613563
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Left ventricular hypertrophy, Achilles tendon contracture, Obesity	OMIM:615418
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Hec Syndrome	Abnormal pupil morphology, Vaginal hydrocele, Developmental cataract, Cardiomyopathy, Endocardial...	ORPHA:2119
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Hypoplasia of the maxilla, Depressed nasal ridge, Atrial septal defect, Th...	ORPHA:79345
Chromosome 15Q25 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Short stature, Hypertelorism...	OMIM:614294
Atelis Syndrome 1	Ventricular septal defect, Prominent nose, Carious teeth, Bronchiectasis, High palate, Long philt...	OMIM:620184
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Ventricular septal defect, Unilateral renal agenesis, Microcephaly, Underdeveloped nasal alae, Cl...	OMIM:601355
3Mc Syndrome	Supernumerary nipple, Hypertelorism, Bilateral cryptorchidism, Abnormal nasal morphology, Postnat...	ORPHA:293843
Oculoectodermal Syndrome	Giant cell granuloma of mandible, Depressed nasal bridge, Transient ischemic attack, Supernumerar...	OMIM:600268
X-Linked Intellectual Disability, Hedera Type	Left ventricular hypertrophy, Obesity	ORPHA:93952
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:610168
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Ventricular sep...	OMIM:619306
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Spontaneous, recurrent epistaxis, Mitral valve calcification, Cachexia, Aortic val...	ORPHA:2072
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Bicuspid aortic valve, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the...	ORPHA:397951
Pfeiffer Syndrome Type 3	Aqueductal stenosis, High palate, Vesicoureteral reflux, Finger syndactyly, Broad hallux phalanx,...	ORPHA:93260
Methimazole Embryofetopathy	Ventricular septal defect, Choanal atresia, Hypospadias, Abnormality of the thyroid gland, Esopha...	ORPHA:1923
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Cryptorchidism, Congenital bilateral hip dislocation, Cerebral cortical atrophy, Syndactyly	ORPHA:404451
Body Mass Index Quantitative Trait Locus 19	Obesity	OMIM:617885
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ...	OMIM:303600
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Short stature, Microcephaly, Micrognathia, Hydrocephalus, Diffuse...	OMIM:259720
Partial Atrioventricular Septal Defect	Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu...	ORPHA:1330
Hypertrichosis Cubiti	Severe short stature, Rhizomelia, Prominent nasal bridge, Micromelia, Microcephaly, Abnormality o...	ORPHA:2220
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Genu v...	OMIM:271510
Meckel Syndrome, Type 3	Occipital encephalocele, Multicystic kidney dysplasia, Hydrocephalus, Postaxial hand polydactyly,...	OMIM:607361
Noonan Syndrome 10	Relative macrocephaly, Ventricular septal defect, Short stature, Hypertelorism, Cryptorchidism, P...	OMIM:616564
Mucopolysaccharidosis Type 3	Adenoiditis, Cardiomegaly, Flexion contracture, Reduced bone mineral density, Aspiration pneumoni...	ORPHA:581
Acquired Aneurysmal Subarachnoid Hemorrhage	Cerebral hemorrhage, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, Ischemic stroke, A...	ORPHA:90065
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph...	ORPHA:93351
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depress...	ORPHA:93258
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Splenomegaly, Flexion contracture, Fa...	OMIM:613327
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Postnatal growth ret...	OMIM:616113
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Downturned corners of mouth, High palate, Widely spaced teeth, Bilateral coxa va...	OMIM:618268
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Osteoarthritis, High palate, Atrial septal defect, Bilateral coxa val...	OMIM:615582
Nasu-Hakola Disease	Cerebral calcification, Hydrocephalus, Bone cyst, Limitation of joint mobility, Reduced bone mine...	ORPHA:2770
Intellectual Developmental Disorder, X-Linked 107	Obesity	OMIM:301013
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, Deeply set eye, Hypoplasia o...	OMIM:257850
Langer Mesomelic Dysplasia	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Aplasia/...	ORPHA:2632
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis	ORPHA:298
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac...	OMIM:611263
Coach Syndrome 2	Cerebellar vermis hypoplasia, Hydrocephalus, Coloboma, Chorioretinal coloboma, Agenesis of corpus...	OMIM:619111
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hepatic steatosis	ORPHA:228305
Elsahy-Waters Syndrome	Bifid scrotum, Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Anteri...	OMIM:211380
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Failure to thrive, Portal hypert...	OMIM:619487
Neurocutaneous Melanocytosis	Death in infancy, Meningocele, Abnormality of neuronal migration, Intracranial hemorrhage, Chorio...	ORPHA:2481
Brain Small Vessel Disease 2	Schizencephaly, Subcortical heterotopia, Porencephalic cyst, Intracranial hemorrhage, Growth dela...	OMIM:614483
Early Infantile Epileptic Encephalopathy	Diffuse cerebral atrophy, Anteverted nares, Depressed nasal bridge, Ventricular septal defect, Mi...	ORPHA:1934
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc...	OMIM:102200
Costello Syndrome	Hyperextensibility of the finger joints, Limited elbow movement, Micrognathia, High palate, Atria...	OMIM:218040
Blepharocheilodontic Syndrome 1	Choanal atresia, Hypertelorism, Conical tooth, Cleft upper lip, Cutaneous syndactyly, Neural tube...	OMIM:119580
3Mc Syndrome 1	Dental crowding, Atrial septal defect, Clinodactyly of the 5th finger, Spina bifida occulta, Caud...	OMIM:257920
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Carious ...	OMIM:259710
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Wide nose, Anophthalmia, Anteverted nares, Severe short stature, Microcephaly, Wide nasal bridge,...	ORPHA:2526
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Death in infancy, Type II lissencephaly, Microcephaly, Cleft upper lip, Hydrocepha...	OMIM:613150
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Tented upper lip vermilion, Microcephaly, Underdeveloped nasal alae, Abnorma...	ORPHA:435628
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Dental malocclusi...	OMIM:614669
Burkitt Lymphoma	Neoplasm of the oral cavity, Intestinal obstruction, Abnormality of the ovary	ORPHA:543
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Biliary hyperplasia, Splenomegaly, Pancr...	ORPHA:731
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Diffuse cerebral atrophy, Single transverse palmar crease, Micrognathia, Biliary hyperplasia, Cho...	ORPHA:83617
Aase-Smith Syndrome I	Death in infancy, Ventricular septal defect, Hydrocephalus, Flexion contracture, Cleft palate, Ta...	OMIM:147800
Thoracomelic Dysplasia	Elbow dislocation, Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Abnormal pelv...	ORPHA:1803
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Ventricular septal defect, Micrognathia, Thick lower lip vermilion, Widely-spaced maxillary centr...	OMIM:608227
Stevenson-Carey Syndrome	Anteverted nares, Underdeveloped nasal alae, Narrow mouth, Pierre-Robin sequence, Downturned corn...	OMIM:611961
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Dental crowding, Partial agenesis of the corpus callosum, Obesity, Cerebral atrophy, Deeply set e...	OMIM:617296
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:614921
Cooper-Jabs Syndrome	Anteverted nares, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Ventricular...	ORPHA:1488
Myopathy With Extrapyramidal Signs	Joint laxity, Tented upper lip vermilion, Anteverted nares, Ventricular septal defect, Hypoplasti...	OMIM:615673
White Forelock With Malformations	Finger syndactyly, Atrial septal defect, Hypertelorism, Deep philtrum, Abnormal rib morphology, J...	ORPHA:2475
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig...	ORPHA:91351
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Microcephaly, Hypertelorism, Widely spaced teeth, Clinodactyly, Retro...	OMIM:619092
Tetrasomy 18P	Microcephaly, Narrow mouth, Abnormality of neuronal migration, Large hands, Thin vermilion border...	ORPHA:3307
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ...	ORPHA:93296
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Vertebral artery hypoplasia, Neurogenic bladder, Unilateral vertebral artery hy...	OMIM:613686
Lowe Oculocerebrorenal Syndrome	Wrist swelling, Bicarbonaturia, Periventricular cysts, Aminoaciduria, Renal Fanconi syndrome, Low...	OMIM:309000
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Short stature, Osteomalacia, Premature loss of primary teeth, Abnormality of...	ORPHA:93160
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Unilatera...	OMIM:216360
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Osteoar...	ORPHA:429
Ciliary Dyskinesia, Primary, 36, X-Linked	Situs inversus totalis, Male infertility	OMIM:300991
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Hypertel...	ORPHA:1553
Congenital-Onset Steinert Myotonic Dystrophy	Tented upper lip vermilion, Patent ductus arteriosus, Obesity, Enuresis, Abnormal cardiac septum ...	ORPHA:589821
Ovarian Fibroma	Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Pleural effusion, Abn...	ORPHA:314473
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Metrorrhagia, Precocious puberty, Ovarian neoplasm, Weight loss, Propto...	ORPHA:370348
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Short stature, Pers...	ORPHA:93325
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovasculariza...	ORPHA:91500
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Lacrimoauriculodentodigital Syndrome	Micrognathia, Xerostomia, Orofacial cleft, Vesicoureteral reflux, Microdontia, Abnormal salivary ...	ORPHA:2363
Multiple Sulfatase Deficiency	Broad hallux phalanx, Anteverted nares, Depressed nasal bridge, Short stature, Microcephaly, Join...	ORPHA:585
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Trichohepatoenteric Syndrome 1	Villous atrophy, Depressed nasal ridge, Bifid uvula, Hypospadias, Anteverted nares, Short stature...	OMIM:222470
Limb-Mammary Syndrome	Syndactyly, Absent nipple, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft ...	ORPHA:69085
Noonan Syndrome 3	Hypoplastic nasal bridge, Anteverted nares, Ventricular septal defect, Short stature, Hypertelori...	OMIM:609942
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, Micrognathia...	ORPHA:1974
Coffin-Siris Syndrome 4	Prominent interphalangeal joints, Short philtrum, Atrial septal defect, Pulmonary artery atresia,...	OMIM:614609
Restrictive Dermopathy	Osteopenia, Ureteral duplication, Multiple joint contractures, Micrognathia, Atrial septal defect...	ORPHA:1662
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ...	ORPHA:1896
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hepatic fibrosis, Hepatoc...	ORPHA:247585
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Mandibular prognathia, Osteopenia, Thickened ribs, Oligosacchariduri...	ORPHA:309282
Curry-Jones Syndrome	Intestinal pseudo-obstruction, Agenesis of corpus callosum, Iris coloboma, Unicoronal synostosis,...	OMIM:601707
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Short Stature With Microcephaly And Distinctive Facies	Microretrognathia, Syndactyly, Short digit, Severe short stature, Small for gestational age, Ante...	OMIM:615789
Spermatogenic Failure 14	Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo...	OMIM:615842
Cimdag Syndrome	Microvesicular hepatic steatosis, Lipodystrophy, Cholelithiasis, Hepatomegaly	OMIM:619273
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Microvesicular hepatic steatosis, S...	OMIM:619418
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, Promine...	ORPHA:364577
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Ventricular septal defect, Microcephaly, Hypoplasia of the pons, Atrial septal defect, Thin corpu...	OMIM:614249
Isolated Splenogonadal Fusion	Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula...	ORPHA:457083
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Hypospadias, Absent septum pellucidum, Anteverted nares, Aganglionic m...	ORPHA:3339
Orofaciodigital Syndrome Xix	Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ...	OMIM:620107
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Beaded rib...	OMIM:166210
Joubert Syndrome 16	Encephalocele, Hypertelorism, Renal cyst, Coloboma, Polydactyly, Nephronophthisis, Dandy-Walker m...	OMIM:614465
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Osteoporosis, Obesity, Increased circulating ACTH level, Nephrolithiasis, Abdo...	OMIM:219090
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific...	ORPHA:1426
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Posterior synechiae of the anterior chamber, Elevated circulating aspartate aminotransferase conc...	OMIM:613154
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Relative macrocephaly, Myelofibrosis, Joint laxity, Ventricular septal defect, Short stature, Lar...	OMIM:607721
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Overweight, Jaundice, Obe...	ORPHA:26793
Pseudo-Torch Syndrome 2	Cerebral calcification, Cerebral hemorrhage, Microcephaly, Secundum atrial septal defect, Patent ...	OMIM:617397
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Primary amenorrhea, Aplasia of the vagina, Aplasia of the fallopian ...	OMIM:158330
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Premature adrenar...	ORPHA:293987
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Cerebral...	OMIM:613759
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis, Carious teeth, H...	OMIM:259700
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Maternal diabetes, Micrognathia, ...	ORPHA:93346
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Mandibular prognathia, Hypospadias, Micromelia, Hypoplasia of the radius, Nonopposable triphalang...	ORPHA:2252
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular hypertrophy	OMIM:617713
8Q12 Microduplication Syndrome	Ventricular septal defect, Wide nasal bridge, Vesicoureteral reflux, Short foot, Everted lower li...	ORPHA:228399
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Coloboma, Chorioretinal coloboma, Triphalangeal thumb, Vesicoureteral refl...	ORPHA:959
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Broad nasal tip, Small hand, Wide nasal base, Broad columella, Depressed nasal tip, S...	ORPHA:488434
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ...	ORPHA:95513
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Accessory oral frenulum, Hypoplasia of the maxilla, Complete atrioventricu...	OMIM:619142
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac...	OMIM:610140
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica...	ORPHA:98855
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Short stature, Bowing of the legs, Disproportionate short-limb short stature, Limb undergrowth, L...	ORPHA:156728
Trichothiodystrophy 4, Nonphotosensitive	Anteverted nares, Ventricular septal defect, Microcephaly, Partial agenesis of the corpus callosu...	OMIM:234050
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Cupped...	OMIM:250420
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Mandibular prognathia, Hip contracture, Depressed nasal bridge, Short stature, Microcephaly, Recu...	OMIM:618493
Mgat2-Cdg	Osteopenia, Ventricular septal defect, Dental crowding, Hypertelorism, Abnormality of the endocri...	ORPHA:79329
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Keratoconjunctivitis, Leukopenia, ...	ORPHA:79277
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Radial Aplasia, X-Linked	Absent radius, Hydrocephalus, Penile hypospadias, Anal atresia	OMIM:312190
Lissencephaly 9 With Complex Brainstem Malformation	Cerebellar vermis hypoplasia, Depressed nasal bridge, Ventricular septal defect, Short stature, M...	OMIM:618325
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Increased body weight, Pa...	ORPHA:263455
Congenital Heart Defects, Multiple Types, 9	Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r...	OMIM:620294
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Knee flexion contracture, Downturned corners of mouth, Clinodactyly of the 5th finger, Bilateral ...	ORPHA:488642
Pseudo-Torch Syndrome 3	Acute kidney injury, Proteinuria, Cardiomegaly	OMIM:618886
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shaped distal pha...	OMIM:271665
Johanson-Blizzard Syndrome	Single transverse palmar crease, Anteriorly placed anus, Downturned corners of mouth, Death in ch...	OMIM:243800
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Severe short stature, Abnormal dental morphology, Camptodactyly of finger, Sho...	ORPHA:2251
Cole-Carpenter Syndrome	Communicating hydrocephalus, Delayed eruption of teeth, Crumpled long bones, Bowing of the long b...	ORPHA:2050
Steinert Myotonic Dystrophy	Tented upper lip vermilion, Intestinal pseudo-obstruction, Decreased response to growth hormone s...	ORPHA:273
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Hepatomegaly, Glomerulonephritis, Cardiomegaly	ORPHA:99931
Acquired Hypertrichosis Lanuginosa	Macroglossia, Weight loss, Glossitis, Ovarian neoplasm	ORPHA:2221
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat...	OMIM:616433
Cat Eye Syndrome	Micrognathia, Chorioretinal coloboma, Vesicoureteral reflux, Atrial septal defect, Iris coloboma,...	OMIM:115470
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j...	ORPHA:2741
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia...	OMIM:212780
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Chromosome 2Q35 Duplication Syndrome	Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista...	OMIM:185900
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short stature, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, T...	ORPHA:3201
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Chronic pan...	ORPHA:98908
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Hydrocephalus, Nephrolithiasis, Gingival overgrowth, Gingivitis, Peri...	ORPHA:722
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Umbilical hernia, Stillbirth, Short ribs, Absent or minimally ossif...	OMIM:600972
46,Xx Sex Reversal 5	Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart, Increased serum...	OMIM:618901
Mccune-Albright Syndrome	Intestinal polyposis, Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated c...	OMIM:174800
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Fusion of the left...	OMIM:617542
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria, Cholelithiasis	OMIM:603903
Vacterl Association With Hydrocephalus	Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Renal hypoplasia, Abnormal he...	OMIM:276950
Osteogenesis Imperfecta, Type X	Osteopenia, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing, Death in childhood...	OMIM:613848
Monosomy 22	Finger syndactyly, Wide nose, Aplasia of the thymus, Single transverse palmar crease, Microcephal...	ORPHA:96123
Ciliary Dyskinesia, Primary, 1	Male infertility, Communicating hydrocephalus, Nasal polyposis, Pneumonia, Situs inversus totalis...	OMIM:244400
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Death in infancy, Small for gestational age, Ventricular septal defect, Microcephaly, Nephrogenic...	OMIM:208085
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal os...	OMIM:271640
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Single transverse palmar crease, Micrognathia, High palate, Arachnod...	OMIM:618348
Chime Syndrome	Depressed nasal ridge, Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Aplas...	ORPHA:3474
Woolly Hair Nevus	Precocious puberty, Widely-spaced incisors, Brachydactyly	ORPHA:79414
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Spina bifida, Abnormal rib morphology, Cleft palate, Abnormal shoulder...	ORPHA:2345
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr...	OMIM:619377
Familial Chylomicronemia Syndrome	Acute pancreatitis, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Decreased body weight, ...	ORPHA:444490
Dyskeratosis Congenita, Autosomal Recessive 8	Esophageal stricture, Pancolitis, Hypotelorism, Inflammation of the large intestine, Intrauterine...	OMIM:620133
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Failure to thrive	OMIM:210200
Adenohypophysitis	Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc...	ORPHA:95512
Distal 16P11.2 Microdeletion Syndrome	Arachnodactyly, Prominent nasal bridge, Proteinuria, Aganglionic megacolon, Chronic kidney diseas...	ORPHA:261222
Celiac Disease, Susceptibility To, 1	Cerebral calcification, Short stature, Stomatitis, Postnatal growth retardation, Celiac disease, ...	OMIM:212750
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Osteopenia, Short stature, Recurrent fractures, Micrognathia, Hydroc...	OMIM:112240
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Small for gestational age, Rocker bottom foot, Recurrent fractures, Prominent nose...	ORPHA:453510
Developmental And Epileptic Encephalopathy 49	Cerebellar vermis hypoplasia, Cerebral calcification, Tented upper lip vermilion, Microcephaly, P...	OMIM:617281
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Enlargement of the ...	OMIM:600081
Krabbe Disease	Hydrocephalus, Failure to thrive, Increased CSF protein concentration, Diffuse cerebral atrophy	OMIM:245200
Holt-Oram Syndrome	Finger syndactyly, Atrial septal defect, Ventricular septal defect, Down-sloping shoulders, Absen...	ORPHA:392
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Gingival overgrowth, Tracheoesophageal fistula, Furrowed tongue...	ORPHA:1839
Mandibuloacral Dysplasia	Dental crowding, Abnormally large globe, Micrognathia, Postnatal growth retardation, Insulin-resi...	ORPHA:2457
15Q14 Microdeletion Syndrome	Ventricular septal defect, Prominent nasal bridge, Short stature, Microcephaly, Abnormality of th...	ORPHA:261190
Hartnup Disorder	Glossitis, Short stature, Neutral hyperaminoaciduria	OMIM:234500
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Microcephaly, Hypoplasia of the...	OMIM:617604
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Microcephaly, Hypertelorism, Deeply set eye, Cerebellar hypopl...	OMIM:618087
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Mandibular prognathia, Tall stature, Joint laxity, Arachnodactyly, P...	OMIM:617011
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Cryptorchidism, Abn...	OMIM:614736
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Metaphyseal widening, Abnormal tibia morphology, Abnor...	ORPHA:321
Congenital Varicella Syndrome	Micromelia, Microcephaly, Microphthalmia, Cerebral cortical atrophy, Intrauterine growth retardation	ORPHA:291
Myoclonic-Astatic Epilepsy	Syndactyly, Thin upper lip vermilion, Anteverted nares, Microcephaly, Thick lower lip vermilion, ...	ORPHA:1942
Mosaic Trisomy 20	Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Micrognathia, Cryptorchidism...	ORPHA:1724
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Proteinuria, Septate vagina, Basal ganglia calcification, Chronic kidney dise...	OMIM:146255
Thrombocytopenia 6	Myelofibrosis, Spontaneous, recurrent epistaxis, Osteoporosis, Hypotelorism, Deeply set eye	OMIM:616937
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Decreased testicular ...	OMIM:614858
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Cleft soft palate, Patent ductus arteriosus, Hypotelorism, Aortic rupture, Bladder di...	OMIM:614557
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Severe short stature, Abnormal dental enamel morphology, Microcephaly, Promine...	ORPHA:1005
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Ventricular septal defect, Optic nerve hypoplasia, Aortopulm...	OMIM:620025
X-Linked Emery-Dreifuss Muscular Dystrophy	Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica...	ORPHA:98863
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Tongue atrophy, Upper limb amyotrophy, Cerebral atrophy,...	ORPHA:496689
Emery-Dreifuss Muscular Dystrophy	Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica...	ORPHA:261
Diamond-Blackfan Anemia	Radial artery aplasia, Micrognathia, High palate, Triphalangeal thumb, Adenocarcinoma of the colo...	ORPHA:124
Orofaciodigital Syndrome Type 5	High, narrow palate, Agenesis of corpus callosum, Bifid uvula, Cleft soft palate, Accessory oral ...	ORPHA:2919
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica...	ORPHA:98853
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Osteoarthritis, En...	OMIM:307800
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Short stature, Micromelia, Co...	ORPHA:63446
Diets-Jongmans Syndrome	Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Short stature, Broad nasal tip,...	OMIM:618846
Campomelia, Cumming Type	Death in infancy, Bowing of the long bones, Multicystic kidney dysplasia, Abnormally ossified ver...	ORPHA:1318
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Dural Sinus Malformation	Cerebral hemorrhage, Subarachnoid hemorrhage, Vascular dilatation, Myelopathy, Hydrocephalus, Cer...	ORPHA:97339
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Broad skull, Short metatarsal, High palate, Shallow orbits, Broad ribs...	OMIM:608328
Ciliary Dyskinesia, Primary, 18	Situs inversus totalis, Abdominal situs ambiguus, Male infertility, Immotile sperm	OMIM:614874
Polysyndactyly With Cardiac Malformation	Syndactyly, Anteverted nares, Ventricular septal defect, Hypertelorism, Preaxial hand polydactyly...	OMIM:263630
Fibular Aplasia-Complex Brachydactyly Syndrome	Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal syno...	ORPHA:2639
Non-24-Hour Sleep-Wake Syndrome	Abnormal pineal melatonin secretion	ORPHA:73267
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	OMIM:212138
Sotos Syndrome	Ureteral duplication, Cerebellar vermis hypoplasia, No permanent dentition, Flexion contracture, ...	ORPHA:821
Pituitary Apoplexy	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:95613
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar...	ORPHA:77296
Narcolepsy 7	Obesity	OMIM:614250
Gangliocytoma	Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent...	ORPHA:251937
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Thick lower lip vermilion, O...	OMIM:608624
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Cerebellar hypoplasi...	OMIM:616276
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Abdominal situs inversus, Dextrocardia, Male infertility	OMIM:619607
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Short stature, Spontaneous neonatal pneumothorax, Frontal open bite, Mi...	OMIM:225410
Jansen-De Vries Syndrome	Thin upper lip vermilion, Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Sho...	OMIM:617450
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Deeply set eye, Short mandibular ...	OMIM:141300
Carnitine Palmitoyltransferase Ii Deficiency	Cerebellar vermis hypoplasia, Cerebral calcification, Hydrocephalus, Polymicrogyria, Red-brown ur...	ORPHA:157
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase	ORPHA:99901
Fanconi Anemia, Complementation Group R	Anal atresia, Microcephaly, Absent thumb, Hydrocephalus, Agenesis of permanent teeth, Growth dela...	OMIM:617244
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Single transverse palmar crease, Broad nasal ti...	ORPHA:466943
Cystinosis, Nephropathic	Cerebral calcification, Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecula...	OMIM:219800
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Anteverted nares, Depressed nasal bridge, Short stature, Micrognathi...	ORPHA:1064
Ciliary Dyskinesia, Primary, 9	Male infertility, Pneumonia, Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Ch...	OMIM:612444
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abnormal carp...	ORPHA:85166
Faundes-Banka Syndrome	Thin upper lip vermilion, Premature thelarche, Underdeveloped nasal alae, Micrognathia, Cryptorch...	OMIM:619376
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Absent external genitalia, Missing ribs, Hypertelorism, Rib fu...	OMIM:271520
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Renal insufficiency, Primary testicular failure, Proteinuria, Intestinal obstru...	ORPHA:85450
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Short stature, Tapered finger, Hip dislocation, Obesity, Th...	OMIM:618395
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Hepatic failure...	ORPHA:541423
Klippel-Trénaunay Syndrome	Peripheral arteriovenous fistula, Microcephaly, Abnormality of the menstrual cycle, Venous insuff...	ORPHA:90308
Tay-Sachs Disease	Hypointensity of cerebral white matter on MRI, Precocious puberty, Progressive macrocephaly, Abno...	ORPHA:845
Acromesomelic Dysplasia 4	Mandibular prognathia, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, R...	OMIM:619636
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:609192
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Weill-Marchesani Syndrome 1	Hypoplasia of the maxilla, Broad skull, Shallow orbits, Broad ribs, Broad metacarpals, Depressed ...	OMIM:277600
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Renal insufficiency, Ketonuria, Macular coloboma, Microcephaly, Hemolytic-uremic syndrome, Hydroc...	ORPHA:79282
Ciliary Dyskinesia, Primary, 14	Male infertility, Situs inversus totalis, Polysplenia, Immotile sperm, Reduced sperm motility	OMIM:613807
Cerebrocostomandibular Syndrome	Death in infancy, Multicystic kidney dysplasia, Cerebral calcification, Ventricular septal defect...	ORPHA:1393
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Short stature, Bilateral cryptorchidism, Hydrocephalus, Flexion contracture, Bon...	ORPHA:3042
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Hepatic steatosis, Decreased liver function	OMIM:614922
Diamond-Blackfan Anemia 1	Micrognathia, Depressed nasal ridge, Hypoplastic coccygeal vertebrae, High palate, Triphalangeal ...	OMIM:105650
Leber Congenital Amaurosis	Encephalocele, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:65
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Abnormal spinal cord morphology	ORPHA:139578
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Recurrent respiratory infections, Long palm, Arachnodactyly, Choanal atresia, Missing ribs, Abnor...	ORPHA:2759
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Anteverted nares, Abnormal heart valve morphology, Short...	ORPHA:1517
Orofaciodigital Syndrome Iv	Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Hypertelorism, Accessory oral...	OMIM:258860
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Brachydactyly, Short stature, Hypertelorism, Wide nasal...	ORPHA:710
Contractural Arachnodactyly, Congenital	Osteopenia, Bicuspid aortic valve, Micrognathia, Knee flexion contracture, High palate, Atrial se...	OMIM:121050
Schisis Association	Encephalocele, Small for gestational age, Spina bifida, Micromelia, Microcephaly, Anencephaly, Tr...	ORPHA:63862
Focal Facial Dermal Dysplasia Type Iv	Cleft upper lip, Microcephaly, Hydrocephalus, Cleft palate, Intracranial hemorrhage	ORPHA:398189
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Growth Hormone Deficiency, Isolated Partial	Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula...	OMIM:615925
Pmm2-Cdg	Mandibular prognathia, Osteopenia, Cerebellar vermis hypoplasia, Multiple joint contractures, Pro...	ORPHA:79318
Dyskeratosis Congenita, Autosomal Recessive 2	Growth delay, Cerebral calcification, Testicular atrophy, Oral leukoplakia	OMIM:613987
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Short stature, Depressed nasal ridge, Limb undergrowth, Abnormal met...	ORPHA:1861
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Short stature, Micrognathia, High, narrow palate, Bulbous nose, Supernumerary ...	ORPHA:1787
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Finger syndactyly, Short stature, Micrognathia, Short nose, Spina bifida occ...	ORPHA:1514
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary ...	OMIM:270100
Congenital Analbuminemia	Lipodystrophy, Small for gestational age, Obesity	ORPHA:86816
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Choanal atresia, Proximal placement of thumb, Microcephaly, Ventricular septal ...	OMIM:610536
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Ketonuria, Depressed nasal bridge, Large for gestational age, Hypertelorism, Aminoaci...	OMIM:614520
Spondylometaphyseal Dysplasia, A4 Type	Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Flared, irregular rib ...	ORPHA:168555
Tolchin-Le Caignec Syndrome	Arachnodactyly, Prominent nose, Precocious puberty, Micrognathia, Hypertelorism, Submucous cleft ...	OMIM:618971
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density, Spinal dysraphism	ORPHA:1114
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Severe Early-Childhood-Onset Retinal Dystrophy	Abnormal corneal endothelium morphology, Posterior subcapsular cataract, Posterior synechiae of t...	ORPHA:364055
Multiple Sulfatase Deficiency	Broad hallux, Anteverted nares, Short stature, Hydrocephalus, Cerebral atrophy, Hypoplastic verte...	OMIM:272200
Fibrochondrogenesis	Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Micromelia, Depressed nasal brid...	ORPHA:2021
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Death in infancy, Ventricular septal defect, Proteinuria, Microcephaly, Nephrogenic diabetes insi...	OMIM:613404
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Neural Tube Defects, Susceptibility To	Absence of the sacrum, Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina ...	OMIM:182940
Oculodentodigital Dysplasia	Selective tooth agenesis, Basal ganglia calcification, High palate, Joint contracture of the 5th ...	OMIM:164200
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Septate vagina, Unilateral renal agen...	ORPHA:2237
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Hamartoma of tongue, Cryptorchidism, Patent ductus arteriosus, 2-3 finger syndactyly, Subvalvular...	ORPHA:1338
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	ORPHA:2088
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Deep anterior chamber, Microspherophakia, Buphthalmos, Megalocornea	OMIM:251750
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis	ORPHA:52430
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Syndactyly, Cerebellar vermis hypoplasia, Small for gestational age, Sh...	OMIM:619869
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Short stature, Patent ductus ...	ORPHA:52055
Hennekam Syndrome	Mild postnatal growth retardation, Abnormal oral mucosa morphology, Ectopic kidney, Short philtru...	ORPHA:2136
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,...	OMIM:231005
Proteasome-Associated Autoinflammatory Syndrome 1	Prominent nose, Cardiomegaly, Basal ganglia calcification, Elevated circulating thyroid-stimulati...	OMIM:256040
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Failure to thrive, Diffuse hepatic steatosis, Decreased liver function	ORPHA:436271
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Blue Diaper Syndrome	Elevated hepatic transaminase, Increased body weight	ORPHA:94086
17Q11 Microdeletion Syndrome	Osteopenia, Bowing of the legs, Abnormal internal carotid artery morphology, Abnormal lung morpho...	ORPHA:97685
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hepatic periportal necrosis, Hepatic steatosis, Jaundice	OMIM:231680
Thoracoabdominal Syndrome	Hypospadias, Cleft upper lip, Hydrocephalus, Patent ductus arteriosus, Anencephaly, Cleft palate,...	OMIM:313850
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Failure to thrive, Microvesicular hepatic steatosis, Jaundice, Cho...	OMIM:617156
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Hypertelorism, Diastema, Deep ...	OMIM:605282
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Abnormal subcutaneous fat tissue distribution, Flexi...	OMIM:212065
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Recurrent respiratory infections, Intestinal obstruction, Death in infancy, Ventricular septal de...	OMIM:243150
Warsaw Breakage Syndrome	Ventricular septal defect, Single transverse palmar crease, Microcephaly, Postnatal growth retard...	OMIM:613398
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Ventricular septal defect, Increased CSF lactate, Hypertrophic cardiomyopathy, ...	OMIM:616277
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Cerebellar vermis hypoplasia, Short stature, Periventricular heterotopia, Simplified gyral patter...	OMIM:618273
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Hepatic necrosis, Failure to thrive, Hepati...	ORPHA:71212
Hereditary Acrokeratotic Poikiloderma	Abnormality of the urethra, Xerostomia, Palmoplantar hyperkeratosis, Gingivitis, Finger syndactyl...	ORPHA:2907
Loeys-Dietz Syndrome	Aortic dissection, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Arterial tortuosity...	ORPHA:60030
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Ectopic kidney, Porencephalic cyst, Renal cyst, Anterio...	OMIM:117650
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Bifid uterus, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia,...	ORPHA:2736
Microsporidiosis	Glossitis, Sinusitis, Osteomyelitis, Pneumonia, Cachexia, Bronchitis, Myocarditis, Abnormality of...	ORPHA:2552
Pontocerebellar Hypoplasia, Type 8	Tented upper lip vermilion, Anteverted nares, Ventricular septal defect, Reduced cerebral white m...	OMIM:614961
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular leukomalacia, Periventricular heterotopia, Periventricular cysts, Hypoplasia of t...	ORPHA:255138
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Ureteral duplication, Absent thumb, Absent radius, Vascular dilatation, Hydr...	OMIM:602200
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Ventricular septal defect, Short stature, Hypertelorism, Dispropo...	ORPHA:85194
Gaucher Disease	Osteopenia, Osteoarthritis, Cherry red spot of the macula, Death in infancy, Increased bone miner...	ORPHA:355
Autosomal Recessive Spastic Paraplegia Type 11	Abnormal substantia nigra morphology, Overweight, Hyperintensity of cerebral white matter on MRI,...	ORPHA:2822
Saethre-Chotzen Syndrome	Long nose, Hypoplasia of the maxilla, Partial duplication of the distal phalanx of the 3rd finger...	OMIM:101400
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Pancreatic fibrosis, Achilles tendon contracture, Hepatic fibrosis, Failure to thri...	OMIM:616263
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit...	OMIM:261515
Lymphangioleiomyomatosis	Recurrent respiratory infections, Abnormal urinary color, Atelectasis, Hydrocephalus, Pneumothora...	ORPHA:538
Diarrhea 10, Protein-Losing Enteropathy Type	Death in infancy, Polyuria, Micrognathia, Pericardial effusion, Cryptorchidism, Recurrent upper r...	OMIM:618183
Ovarian Dysgenesis 3	Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ...	OMIM:614324
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Severe short stature, Depressed nasal bridge, Osteomalacia, Coxa valga, Avascular nec...	ORPHA:1901
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Increased bone mineral density, Depressed nasal bridge, Cortical subpe...	ORPHA:94089
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Sept...	ORPHA:1319
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterotopia, Agen...	OMIM:207950
16P13.11 Microduplication Syndrome	Ventricular septal defect, Arachnodactyly, Craniosynostosis, Coarctation of aorta, Joint hyperfle...	ORPHA:261243
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasi...	ORPHA:2476
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Anteverted nares, Short stature, Microcephaly, Wide nasal bridge, Abnormality of neuronal migrati...	ORPHA:2518
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Microcephaly, Hypoplasia of the maxilla, Hypertelorism, Recurrent upper respiratory tr...	ORPHA:2399
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Mild microcephaly, Aplasia/Hy...	ORPHA:2255
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p...	OMIM:200700
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Cerebral ca...	ORPHA:1782
Mogs-Cdg	Hepatomegaly, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, At...	ORPHA:79330
Beck-Fahrner Syndrome	Ventricular septal defect, Joint hypermobility, Microcephaly, Cardiomegaly, Hip dysplasia, Extra-...	OMIM:618798
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz...	OMIM:618019
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Abnormal p...	ORPHA:667
Cystinosis	Renal insufficiency, Short stature, Proteinuria, Malabsorption, Nephrogenic diabetes insipidus, R...	ORPHA:213
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Short stature, Broad nasal tip, Preaxial hand polydactyly, Deep phi...	ORPHA:1297
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge, Reduced bone mine...	ORPHA:828
Distal Deletion 19P	Long toe, Vaginal hernia, Ventricular septal defect, Arachnodactyly, Hypoplasia of the maxilla, C...	ORPHA:96129
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Short stature, Epistaxis, Rickets, Cholelithiasis, Fat malabsorption, Failure to thrive	OMIM:211600
Ramos-Arroyo Syndrome	Atrial septal defect, Severe short stature, Anteverted nares, Depressed nasal bridge, Aganglionic...	ORPHA:1051
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Patent ductus arte...	ORPHA:1556
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Recurrent respiratory infections, Ventricular septal defect, Decreased response to growth hormone...	OMIM:610978
Ataxia-Oculomotor Apraxia 4	Obesity	OMIM:616267
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E...	OMIM:616898
Cranioacrofacial Syndrome	Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Micrognathia, Reduced bone mineral density, Glossoptosis, Increased head ...	ORPHA:94068
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Hypertelorism,...	OMIM:614800
Diamond-Blackfan Anemia 7	Osteopenia, Small hypothenar eminence, Ventricular septal defect, Choanal atresia, Secundum atria...	OMIM:612562
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Postnatal growth retardation, Adrenocortic...	ORPHA:1435
Hydrocephalus, Congenital, X-Linked	Thumb contracture, Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Macrocephaly, Co...	OMIM:307000
Peripartum Cardiomyopathy	Diabetes mellitus, Abnormality of thyroid physiology, Left atrial enlargement, Myocarditis, Dilat...	ORPHA:563
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Failure to thrive	OMIM:616672
Orofaciodigital Syndrome Type 3	Irregular dentition, Cerebellar vermis hypoplasia, Hamartoma of tongue, Hypertelorism, Abnormalit...	ORPHA:2752
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Goldberg-Shprintzen Syndrome	Ventricular septal defect, Prominent nasal bridge, Aganglionic megacolon, Tapered finger, Microce...	OMIM:609460
Santos Syndrome	Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu...	OMIM:613005
Hypophosphatemic Rickets, X-Linked Recessive	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino...	OMIM:300554
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Hyperphosphaturia, Short stature, Osteomalacia, Decrease...	ORPHA:157215
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Dental crowding, Persistence of primary teeth, Overweight, Hiatus hern...	OMIM:619769
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa...	ORPHA:2098
Oculocerebral Hypopigmentation Syndrome, Preus Type	Arachnodactyly, Short stature, Hydrocephalus, Reduced bone mineral density, High palate, Abnormal...	ORPHA:2720
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Humeror...	ORPHA:2019
Mandibulofacial Dysostosis With Alopecia	Hydroureter, Bicuspid aortic valve, Dental crowding, Delayed eruption of primary teeth, Micrognat...	OMIM:616367
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Relative macrocephaly, Increased bone mineral density, Short stature, Micrognathia, Macrocephaly,...	OMIM:617306
Dent Disease 1	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino...	OMIM:300009
Amelocerebrohypohidrotic Syndrome	Abnormality of dental color, Short stature, Abnormal dental enamel morphology, Hydrocephalus, Yel...	ORPHA:1946
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S...	OMIM:608728
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Neoplasm of the stomach, Pancreatoblastoma, Pituitary corticotropic cell ade...	ORPHA:99889
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Short stature, Camptodactyly of finger, Supernumera...	ORPHA:464
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Abnormal tricuspid valve morphology, Short stature, Peripheral arter...	ORPHA:580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Short nasal bridge, Type II lissencephaly, Microcephaly, Micrognathia, Hydrocephalus, Aplasia/Hyp...	OMIM:253280
Microtia	Holoprosencephaly	ORPHA:83463
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Small scrotum, Cerebellar vermis hypoplasia, High palate, Bifid uvula, Lon...	OMIM:620330
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Microcephaly, Preaxial polydactyly, Spina bifida...	ORPHA:64754
Osteopetrosis, Autosomal Recessive 7	Multiple rib fractures, Death in infancy, Abnormal trabecular bone morphology, Femur fracture, Hy...	OMIM:612301
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Overweight, Obesity	ORPHA:247353
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Osteoarthritis, Cleft palate, Glossoptosis, Abnormal metacarpal morphology, Malar f...	ORPHA:166100
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure	OMIM:611126
Ciliary Dyskinesia, Primary, 34	Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Bronch...	OMIM:617091
Neurofibromatosis, Type I	Short stature, Spina bifida, Hypertelorism, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthr...	OMIM:162200
Mesomelic Dysplasia, Kantaputra Type	Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal r...	ORPHA:1836
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Aganglionic mega...	OMIM:236700
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Thin upper lip vermilion, Anal stenosis, Depressed nasal bridge, Optic nerve hypoplasia, Microgna...	OMIM:620029
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Postaxial polydactyly, Vascular dilatation, Hydro...	OMIM:219730
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Cortical dysplasia, Tracheoesophageal fistula, Cleft palate, D...	ORPHA:261272
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Sympathetic Ophthalmia	Cataract, Anterior chamber cells, Posterior synechiae of the anterior chamber, Posterior uveitis,...	ORPHA:79098
Abdominal Obesity-Metabolic Syndrome 4	Obesity	OMIM:618620
Central Neurocytoma	Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus	ORPHA:73256
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri...	ORPHA:67043
Bifid Nose With Or Without Anorectal And Renal Anomalies	Short lingual frenulum, Unilateral renal agenesis, Precocious puberty, Bulbous nose, Ebstein anom...	OMIM:608980
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Short stature, Limb joint contracture, Tapered finger, Microcephaly, F...	OMIM:301072
Fucosidosis	Hepatomegaly, Mucopolysacchariduria, Cardiomegaly	ORPHA:349
Ciliary Dyskinesia, Primary, 19	Male infertility, Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bron...	OMIM:614935
Leigh Syndrome	Multiple joint contractures, Encephalomalacia, Complex organic aciduria, Focal T2 hyperintense ba...	ORPHA:506
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly, Urinary incontinence, Microcephaly	OMIM:615284
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Vertebral hypoplasi...	OMIM:602557
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:277900
Microtia-Anotia	Holoprosencephaly	OMIM:600674
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas...	OMIM:618329
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, High palate, Wid...	OMIM:143095
Craniosynostosis, Philadelphia Type	Finger syndactyly, Craniosynostosis	ORPHA:1527
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Rib fusion, Short ri...	OMIM:173800
Joubert Syndrome 30	Gray matter heterotopia, Postaxial hand polydactyly, Dandy-Walker malformation, Ventriculomegaly	OMIM:617622
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypoplastic nipples, Hypodontia,...	OMIM:603543
X-Linked Hypophosphatemia	Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	ORPHA:348
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Micromelia, Joint stiffness, ...	ORPHA:2249
Camptobrachydactyly	Syndactyly, Urinary incontinence, Septate vagina, Short toe, Hand polydactyly, Congenital finger ...	OMIM:114150
Ciliary Dyskinesia, Primary, 45	Male infertility, Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein...	OMIM:618801
Keutel Syndrome	Recurrent respiratory infections, Wide nose, Depressed nasal bridge, Ventricular septal defect, S...	ORPHA:85202
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Rhizomeli...	OMIM:616229
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly	OMIM:268800
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Short stature, Craniosynostos...	OMIM:250410
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, 3-Methylglutaconic aciduria, Cardiomegaly	OMIM:619259
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Micrognathia, High palate, Atrial septal defect, Patent foramen ovale, Ant...	OMIM:619343
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Iris hypopigmen...	ORPHA:54
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia, Absent vas deferens	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia, Absent vas deferens	OMIM:277180
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Short stature, Camptodactyly of finger, Micrognathia, Joint stiffness, Narrow ...	ORPHA:1323
Cryptococcosis	Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Hydrocephalus, Osteolysis, Pleural e...	ORPHA:1546
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Increased hepa...	OMIM:220110
Indomethacin Embryofetopathy	Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Cardiomyopathy, Atr...	ORPHA:1909
Penile Agenesis	Maternal diabetes, Bilateral renal hypoplasia, Absent penis, Atrial septal defect, Urethral atres...	ORPHA:49
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Buphthalmos, Hypoplasia of t...	OMIM:616538
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,...	ORPHA:957
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Micrognathia, Aminoaciduria, Protein-losing...	OMIM:619991
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e...	ORPHA:57777
Astley-Kendall Dysplasia	Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia	ORPHA:85175
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Arachnodactyly, Proteinuria, Micrognathia...	OMIM:616730
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Microm...	ORPHA:1675
Multiple Endocrine Neoplasia Type 2	Elevated circulating parathyroid hormone level, Pheochromocytoma, Ganglioneuromatosis, Elevated u...	ORPHA:653
Radio-Renal Syndrome	Multicystic kidney dysplasia, Severe short stature, Depressed nasal bridge, Micromelia, Micrognat...	ORPHA:3015
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Intestinal malrotation, Microcephaly, Situs inversus totalis, Bilateral superior ve...	OMIM:605376
Syndromic Diarrhea	Villous atrophy, Small for gestational age, Bicuspid aortic valve, Ventricular septal defect, Hyp...	ORPHA:84064
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs...	OMIM:616037
Lesch-Nyhan Syndrome	Short stature, Hip dislocation, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Testicular at...	OMIM:300322
Feingold Syndrome 1	Micrognathia, High palate, Anteverted nares, Short thumb, Short toe, Patent ductus arteriosus, Es...	OMIM:164280
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Alzahrani-Kuwahara Syndrome	Hypospadias, Pulmonary artery sling, Coronary sinus enlargement, Microcephaly, Prominent nose, Ve...	OMIM:619268
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly	OMIM:208000
Grange Syndrome	Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Increased sus...	ORPHA:79094
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Relative macrocephaly, Mandibular prognathia, Joint laxity, Rhizomelia, Metaphyseal widening, Irr...	OMIM:612813
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Cholestasis, Left ventricular hypertrophy, Diffuse hepatic steatosi...	ORPHA:746
Orofaciodigital Syndrome Xvi	Depressed nasal bridge, Hamartoma of tongue, Postaxial hand polydactyly, Postaxial foot polydacty...	OMIM:617563
Arima Syndrome	Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Chorioretinal coloboma, Nephronophthis...	OMIM:243910
Stüve-Wiedemann Syndrome	Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smoo...	ORPHA:3206
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Microgn...	ORPHA:246
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Wide nose, Long nose, Patent ductus arteriosus, Anomalous pulmonary ...	ORPHA:2184
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Limited elbow movement, Limited w...	OMIM:617809
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Urinary incontinence, Cardiomegaly	OMIM:105210
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Melanosis, Neurocutaneous	Choroid plexus papilloma, Death in infancy, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Polyuria, Osteoporosis, Rickets, Death in adolescence, Proximal tubulopathy, Death in childhood, ...	OMIM:560000
Tricuspid Atresia	Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao...	ORPHA:1209
Orofaciodigital Syndrome Type 10	Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ...	ORPHA:2756
Griscelli Syndrome	Encephalocele, Pyloric stenosis, Hydrocephalus, Short stature	ORPHA:381
Gray Platelet Syndrome	Epistaxis, Abnormality of the menstrual cycle	ORPHA:721
Tuberous Sclerosis 1	Dental enamel pits, Cerebral calcification, Precocious puberty, Gingival fibromatosis, Renal cyst...	OMIM:191100
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Ventricular septal defect, Short stature, Stroke, Atrial septal defect	ORPHA:49827
Neonatal Lupus Erythematosus	Basal ganglia calcification, Hydrocephalus, Dilated cardiomyopathy, Abnormal heart morphology, Ab...	ORPHA:398124
Occipital Horn Syndrome	Osteopenia, Cerebral calcification, Venous insufficiency, High, narrow palate, Coxa vara, Humerus...	ORPHA:198
Pontocerebellar Hypoplasia, Type 1B	Tongue atrophy, Flexion contracture, Hip dislocation, Cerebral atrophy, Growth delay, Tongue fasc...	OMIM:614678
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Recurrent respiratory infections, Anal stenosis, Depressed na...	ORPHA:647
Multiple Acyl-Coa Dehydrogenase Deficiency	Scapular winging, Depressed nasal bridge, Glutaric aciduria, Lacticaciduria, Abnormal heart morph...	ORPHA:26791
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Intracerebral periventricular calcifications, Short stature, Microce...	ORPHA:168577
Eem Syndrome	Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Ectrodact...	ORPHA:1897
Adiposis Dolorosa	Obesity	ORPHA:36397
Schizophrenia 1	Syndactyly, Short stature, Ectopic kidney, Hypertelorism, Short proximal phalanx of the 4th toe	OMIM:181510
Fraser Syndrome 2	Wide nose, Intestinal malrotation, Unilateral renal agenesis, Underdeveloped nasal alae, Rectal a...	OMIM:617666
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly, Death in infancy, Carious teeth, Pyloric stenosis, Enamel hypoplasia, Failure to thrive	OMIM:226700
Marcus-Gunn Syndrome	Choanal atresia, Postnatal growth retardation, Cleft lip, Nephrolithiasis, Cleft palate, Abnormal...	ORPHA:91412
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Plasminogen Deficiency, Type I	Duodenal ulcer, Hydrocephalus, Recurrent upper respiratory tract infections, Nephrolithiasis, Gin...	OMIM:217090
Cerebral Visual Impairment	Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Intracranial hemorrhage, Abnormal cerebral w...	ORPHA:447788
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Short stature, Reduced bone mineral density, Wide mouth, Pulmonic sten...	OMIM:615279
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Cerebellar vermis hypoplasia, Ventricular septal defect, Hypertelorism, Hypopl...	OMIM:619909
Spinal Arteriovenous Metameric Syndrome	Abnormal spinal cord morphology, Spinal arteriovenous malformation	ORPHA:53721
Weill-Marchesani Syndrome	Ventricular septal defect, Short stature, Short thumb, Limitation of joint mobility, Pulmonic ste...	ORPHA:3449
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Atrial septal defect, Pancreatic hypoplasia, Hypoplastic tricuspid valve, P...	OMIM:600001
Tuberous Sclerosis Complex	Pancreatic endocrine tumor, Cortical dysplasia, Renal cyst, Pheochromocytoma, Subependymal nodule...	ORPHA:805
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Ost...	OMIM:610489
Intrahepatic Cholestasis Of Pregnancy	Small for gestational age, Abnormal pineal melatonin secretion, Hypothyroidism	ORPHA:69665
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Collagenoma, Familial Cutaneous	Cardiomyopathy, Right ventricular cardiomyopathy, Iris atrophy, Primary testicular failure	OMIM:115250
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect, Cerebral atrophy	ORPHA:306550
Spondyloepiphyseal Dysplasia, Kimberley Type	Proportionate short stature, Osteoarthritis, Abnormal epiphysis morphology, Micromelia	ORPHA:93283
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Cachexia, Hyper...	ORPHA:275761
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Single transverse palmar crease, Short stature, Microcephaly, Small ha...	OMIM:614947
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, High pala...	OMIM:613795
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Gray matter heterotopia, Abnormal periventricular white matter morpholo...	OMIM:615960
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Vertebral fusion, Ventricular septal defect, Tarsal synostosis, Short stature, M...	OMIM:178110
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio...	ORPHA:308552
Familial Multiple Lipomatosis	Bowing of the long bones, Cerebral calcification, Odontogenic keratocysts of the jaw, Coloboma, O...	ORPHA:199276
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Hypoplastic scapulae, Short stature, Femoral retroversion, Micromelia, ...	ORPHA:79107
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Narrow mouth, Ankylosis, Dental malocclusion, Cleft palate, Mandib...	OMIM:602483
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect, Proportionate short stature, Cleft upper lip, Microcephaly, Cleft pala...	OMIM:609654
Oxoglutaric Aciduria	Abnormal urine alpha-ketoglutarate concentration, Abnormal salivary gland morphology, Short statu...	ORPHA:31
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ...	OMIM:614262
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia	OMIM:273680
Adams-Oliver Syndrome 6	Syndactyly, Ventricular septal defect, Esophageal varix, Renal hypoplasia, Foot oligodactyly, Tru...	OMIM:616589
Cronkhite-Canada Syndrome	Intestinal polyposis, Cachexia, Tapered finger, Malabsorption, Hypogeusia, Furrowed tongue, Hamar...	ORPHA:2930
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Microvesic...	OMIM:203700
Monosomy 22Q13.3	Dental crowding, Bulbous nose, Dental malocclusion, Obesity, Wide nasal bridge, Vesicoureteral re...	ORPHA:48652
Interstitial Cystitis	Dyspareunia, Abnormal labia morphology, Abnormality of the menstrual cycle, Abnormality of the ur...	ORPHA:37202
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Hip contracture, Large for gestational age, Microvesicular hepatic steatosis, Birth...	OMIM:300868
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Hepatic steatosis	ORPHA:445038
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Severe short stature, Bowing of the legs, Delayed epiphyseal ossification, Metaphys...	ORPHA:93352
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Short metatarsal, Tibial bowing, Tarsometatarsal synostosis, Short phal...	OMIM:600383
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Alagille Syndrome 1	Long nose, Multiple small medullary renal cysts, Deeply set eye, Papillary thyroid carcinoma, Ves...	OMIM:118450
Facioscapulohumeral Muscular Dystrophy 1	Scapular winging, Shoulder girdle muscle weakness, Tongue atrophy	OMIM:158900
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue, Joi...	ORPHA:2167
Thauvin-Robinet-Faivre Syndrome	Ventricular septal defect, Bowing of the legs, Large for gestational age, Hypertelorism, Renal cy...	OMIM:617107
Chand Syndrome	Short fifth metatarsal, Depressed nasal bridge, Hydroureter, Hypertelorism, Atelectasis, Cleft pa...	ORPHA:1401
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Pollakisuria, Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Retinal Dystrophy With Or Without Macular Staphyloma	Truncal obesity	OMIM:617547
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Abdominal Obesity-Metabolic Syndrome 3	Truncal obesity, Abdominal obesity	OMIM:615812
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly, Conical tooth, Carious teeth, Hypertelorism, Bilateral cleft lip and palate, A...	ORPHA:1997
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Shortening of all phalanges of fingers, Macrocephaly, Bilateral ta...	OMIM:601356
Adrenomyeloneuropathy	Frontal balding, Atrophy of the spinal cord, Abnormal spinal cord morphology, Fine hair, Dorsal c...	ORPHA:139399
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Prominent nose, Micrognathia, Aplasia of the epiglottis, High palate...	OMIM:268305
Kyphomelic Dysplasia	Micromelia, Micrognathia, Tibial bowing, Femoral bowing, Short metacarpal, Radial bowing, Depress...	OMIM:211350
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
X-Linked Cerebral Adrenoleukodystrophy	Short attention span, Confusion, Myelopathy, Abnormal spinal cord morphology, Mental deterioratio...	ORPHA:139396
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thick upper lip vermilion, Thin bony cortex, Anteverted nares, Ventricular...	OMIM:619727
Kawasaki Disease	Glossitis, Pericarditis, Abnormal heart valve morphology, Proteinuria, Recurrent pharyngitis, Myo...	ORPHA:2331
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Patent foramen ovale, Coarctati...	OMIM:618748
Transketolase Deficiency	Atrial septal defect, Increased level of ribose in urine, Ventricular septal defect, Abnormal cor...	ORPHA:488618
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Sever...	ORPHA:85167
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Periventricular leukomalacia, Ventricular septal defect, Microcephaly	ORPHA:357225
Slc39A8-Cdg	Osteopenia, Failure to thrive in infancy, Short stature, Craniosynostosis, Elbow flexion contract...	ORPHA:468699
Diamond-Blackfan Anemia 5	Ventricular septal defect, Hypospadias, Short stature, Hypertelorism	OMIM:612528
Periventricular Nodular Heterotopia	Abnormal heart valve morphology, Periventricular heterotopia, Pyloric stenosis, Patent ductus art...	ORPHA:98892
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectop...	OMIM:617466
Glutaric Acidemia I	Ketonuria, Glutaric aciduria, Hydrocephalus, Lateral ventricle dilatation, Macrocephaly, Failure ...	OMIM:231670
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Hepatomegaly, Flexion contracture, Increased intramyocellular lipi...	ORPHA:17
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in ...	ORPHA:20
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cirrhosis, Failure to thrive, Hepatic stea...	OMIM:229600
Sturge-Weber Syndrome	Cerebral calcification, Abnormal cerebral vascular morphology, Hydrocephalus, Gingival overgrowth...	ORPHA:3205
Nephronophthisis 18	Tubulointerstitial nephritis, Hydrocephalus, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:615862
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Jaundice, Cholestasis,...	ORPHA:247598
Fanconi Renotubular Syndrome 2	Osteopenia, Renal insufficiency, Short stature, Proteinuria, Osteomalacia, Recurrent fractures, R...	OMIM:613388
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Short stature, Rickets, Renal phosphate wasting, Hypophosphatemic rickets, E...	OMIM:612089
Developmental And Epileptic Encephalopathy 95	Cryptorchidism, Hepatomegaly, Cardiomegaly	OMIM:618143
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Relative macrocephaly, Mandibular prognathia, Joint laxity, Rhizomelia, Absent nasal bridge, Meso...	ORPHA:171866
Pituitary Carcinoma	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro...	ORPHA:300385
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hepatic fibrosis, Cirrhosis, Failure t...	ORPHA:14
Orofaciodigital Syndrome Iii	Hypertelorism, Bulbous nose, Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Pos...	OMIM:258850
Peroxisome Biogenesis Disorder 13A (Zellweger)	Dicarboxylic aciduria, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Gray matter heter...	OMIM:614887
3-Methylglutaconic Aciduria, Type Viib	Flexion contracture, Hepatic steatosis	OMIM:616271
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxill...	ORPHA:306542
Malakoplakia	Proteinuria, Dysuria, Abnormality of the menstrual cycle, Orchitis, Urinary bladder inflammation,...	ORPHA:556
X-Linked Agammaglobulinemia	Sinusitis, Short stature, Osteomyelitis, Malabsorption, Abnormal lung morphology, Recurrent pneum...	ORPHA:47
Alg11-Cdg	Cerebral white matter atrophy, Microcephaly, Retrognathia, Cerebral atrophy, Abnormal cerebral wh...	ORPHA:280071
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Renal Agenesis	Renal insufficiency, Absent vas deferens, Ventricular septal defect, Proteinuria, Unilateral rena...	ORPHA:411709
Phace Syndrome	Optic nerve hypoplasia, Cerebral arteriovenous malformation, Microcephaly, Lens coloboma, Abnorma...	ORPHA:42775
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Atrophic gastritis, Hypergonadotropic hypogonadism, Celiac disease, Primary adrenal i...	ORPHA:227990
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Ce...	ORPHA:227982
L1 Syndrome	Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon, Adducted thumb	ORPHA:275543
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Pallidal degeneration, T2 hypointense basal ganglia, Abnormal putame...	ORPHA:25
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m...	ORPHA:1071
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Solitary Bone Cyst	Abnormal spinal cord morphology	ORPHA:83468
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Retinitis Pigmentosa 74	Obesity	OMIM:616562
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Stroke, Abnormal perivent...	ORPHA:395
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Micrognathia, Hypertelorism, Patent ductus arteriosus, Bilateral cleft li...	ORPHA:2001
Congenital Disorder Of Glycosylation, Type Iiw	Wide nose, Membranoproliferative glomerulonephritis, Ventricular septal defect, Microscopic hemat...	OMIM:619525
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Mesomelic short stature, Overgrowth, Talip...	OMIM:163400
Lipoid Proteinosis	Recurrent respiratory infections, Nasal polyposis, Cerebral calcification, Abnormal oral mucosa m...	ORPHA:530
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Holt-Oram Syndrome	Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnormal carpal morphology...	OMIM:142900
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Microcephaly, Hemolytic-uremic syndrome, Cystathioninuria, Hydr...	OMIM:277400
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity...	OMIM:249700
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Small for gestational age, Large for gestational age, Postnatal growth...	ORPHA:254534
Tuberous Sclerosis 2	Cerebral calcification, Absence of renal corticomedullary differentiation, Precocious puberty, Gi...	OMIM:613254
Blepharocheilodontic Syndrome 2	Hypertelorism, Conical tooth, Cleft lip, Cutaneous syndactyly, Tooth agenesis	OMIM:617681
Coxoauricular Syndrome	Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral densi...	ORPHA:1508
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Limb joint contracture, N...	ORPHA:404454
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cardiomegaly	ORPHA:158687
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,...	OMIM:606519
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Temporomandibular joint ...	OMIM:164900
15Q11.2 Microdeletion Syndrome	Dilated fourth ventricle, Thick cerebral cortex, Ventricular septal defect, Microcephaly, Abnorma...	ORPHA:261183
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia, Microcephaly	OMIM:617008
Hemangioblastoma	Hydrocephalus, Neurogenic bladder	ORPHA:252054
Cleft-Limb-Heart Malformation Syndrome	Syndactyly, Truncus arteriosus	OMIM:215850
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Small for gestational age, Elevated circulating aspartate aminotransferase concentr...	OMIM:619573
Knobloch Syndrome	Occipital encephalocele, Depressed nasal bridge, Dextrocardia, Pyloric stenosis, Patent ductus ar...	ORPHA:1571
Seckel Syndrome 10	Acute pancreatitis, Elevated circulating alanine aminotransferase concentration, Hepatic steatosi...	OMIM:617253
Hb Bart'S Hydrops Fetalis	Hydrocephalus, Pericarditis	ORPHA:163596
Acute Disseminated Encephalomyelitis	Confusion, Abnormal spinal cord morphology, Irritability, Mental deterioration, Myelitis	ORPHA:83597
Gaucher Disease, Perinatal Lethal	Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly	OMIM:608013
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Glossitis, Thin upper lip vermilion, Small for gestational age, Dextrocardia, Short stature, Stom...	OMIM:277380
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Patent ductus arteriosus, Aplasia/Hypoplasi...	ORPHA:1112
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Hypercalciuria, Growth delay, Nephrocalcinosis, Distal renal tubular acidosis, Failure t...	OMIM:602722
Isotretinoin Embryopathy-Like Syndrome	Cleft palate, Hydrocephalus, Conotruncal defect, Micrognathia	OMIM:243440
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Peripo...	OMIM:124000
Glycogen Storage Disease Ii	Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly	OMIM:232300
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to...	ORPHA:989
Hardikar Syndrome	Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, Patent foramen ovale, Short statu...	OMIM:301068
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Short stature, Rickets, Nephrocalcinosis, Distal renal tubular acidosis, Failure to ...	OMIM:611590
Kindler Epidermolysis Bullosa	Urethral stricture, Flexion contracture, Gingivitis, Inflammation of the large intestine, Colitis...	ORPHA:2908
Pearson Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Small for gestational age, Sple...	ORPHA:699
Autosomal Recessive Hypophosphatemic Rickets	Abnormality of renal excretion, Coxa vara, Tibial bowing, Enthesitis, Hypophosphatemic rickets, G...	ORPHA:289176
Dent Disease	Enlarged epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Nephrocalcinosis, Aminoa...	ORPHA:1652
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	OMIM:615356
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res...	ORPHA:293978
African Trypanosomiasis	Abnormal basal ganglia MRI signal intensity, Pericarditis, Renal insufficiency, Miscarriage, Urin...	ORPHA:3385
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Glycopeptiduria, Oligosacchariduria	OMIM:230000
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Deafness-Craniofacial Syndrome	Short lingual frenulum, Underdeveloped nasal alae, Abnormality of the dentition, Patent ductus ar...	ORPHA:3241
Igg4-Related Ophthalmic Disease	Sinusitis, Orchitis, Abnormal lung morphology, Abnormality of the anterior pituitary, Enlarged la...	ORPHA:449563
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Aganglionic megacolon, Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal de...	OMIM:235750
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte...	ORPHA:210122
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Renal insufficiency, Overlapping toe, Ventricular septal defect, Microcephaly, ...	OMIM:617478
Delpire-Mcneill Syndrome	Ventricular septal defect, Cortical dysplasia, Hip dislocation, Tracheoesophageal fistula, Agenes...	OMIM:619083
Charcot-Marie-Tooth Disease, Type 4C	Hammertoe, Talipes equinovarus, Tongue fasciculations, Tongue atrophy	OMIM:601596
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Death in infancy, Endocardial fibroelastosis	OMIM:600559
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Crumpled long bones, Death in infancy, Rhizomelia, Protrusio ...	OMIM:610682
Lysinuric Protein Intolerance	Hepatomegaly, Splenomegaly, Truncal obesity, Failure to thrive, Pancreatitis	OMIM:222700
Joubert Syndrome 33	Syndactyly, Macrocephaly	OMIM:617767
Gaisböck Syndrome	Overweight, Splenomegaly, Cholecystitis, Obesity	ORPHA:90041
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Areflexia of upper limbs, Tongue atrophy, Talipes equinovarus	OMIM:616155
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Short stature, Proteinuria, Micromelia, Ulnar bowing, Nephropathy, Madelung deform...	ORPHA:1765
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Osteomalacia, Bowing of the legs, Rickets, Growth delay, Tooth abscess	ORPHA:89937
Hypophosphatasia, Adult	Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t...	OMIM:146300
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Peptic ulcer, P...	OMIM:131100
Hypophosphatemic Rickets, Autosomal Dominant	Short stature, Osteomalacia, Abnormality of the dentition, Rickets, Renal phosphate wasting, Hypo...	OMIM:193100
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Cleft upper lip, Cleft palate, Fused cervical vertebrae, Cervical C2/C...	OMIM:214300
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s...	ORPHA:573278
1P21.3 Microdeletion Syndrome	Broad nasal tip, Micrognathia, Obesity, Wide mouth, Deeply set eye, Macrocephaly, Short nose, Joi...	ORPHA:293948
Capillary Malformation-Arteriovenous Malformation	Neurogenic bladder, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformat...	ORPHA:137667
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe	OMIM:612581
Hypermobile Ehlers-Danlos Syndrome	Venous insufficiency, Abnormality of the gingiva, Osteoarthritis, Gingivitis, Microdontia, Abnorm...	ORPHA:285
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Diabetes mellitus, Proteinuria, Short stature, Large for gestational age, Rick...	OMIM:616026
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Tongue fasciculations, Tongue atrophy	OMIM:613435
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Small for gestational age, Patent ductus arteriosus,...	OMIM:617021
Fatco Syndrome	Finger syndactyly, Short stature, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absen...	ORPHA:2492
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr...	ORPHA:93111
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland...	ORPHA:64744
Keutel Syndrome	Cerebral calcification, Sinusitis, Cartilaginous ossification of nose, Deep philtrum, Pulmonary a...	OMIM:245150
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect, Bronchiectasis, Long philtrum, Uterine prolapse, Emphysema, Convex nas...	OMIM:123700
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Elbow...	ORPHA:85170
Diamond-Blackfan Anemia 10	Ventricular septal defect, Choanal atresia, Short stature, Micrognathia, Ectopic kidney, Patent d...	OMIM:613309
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Small for gestational age, Ventricular septal defect, Pericardial effusion, Cholelithiasis, Hyper...	OMIM:618775
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Microvesicular hepatic steatosis	ORPHA:66634
Acromesomelic Dysplasia 1	Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad...	OMIM:602875
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Splenomegaly, Hepatitis, Weight loss, Hepatic steatosis	OMIM:615846
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly, Supernumerary nipple	ORPHA:1433
Bazex-Dupre-Christol Syndrome	Narrow nasal ridge, Underdeveloped nasal alae, Furrowed tongue, Joint hypermobility, Low hanging ...	OMIM:301845
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Basal Cell Nevus Syndrome 2	Palmar pits, Hydrocephalus, Calcification of falx cerebri, Macrocephaly	OMIM:620343
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Short stature, Cachexia, Microcephaly, Hydrocephalus, Arteriosclerosis	ORPHA:220295
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Short stature, Bowing of the legs, Rickets, Growth delay, Aminoaciduria, Glyco...	OMIM:615605
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Anteverted nares, Short stature, Cachexia, Abnormality of the thyroid gland, M...	ORPHA:1969
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis, Hypercalciuria	ORPHA:2239
Arachnoiditis	Hydrocephalus, Urinary bladder sphincter dysfunction	ORPHA:137817
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Urinary incontinence	OMIM:236690
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod...	OMIM:609638
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Short Stature, Developmental Delay, And Congenital Heart Defects	Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Atrial septal d...	OMIM:617044
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Osteomalacia, Malabsorption, Postnatal growth retardat...	OMIM:227810
Wiskott-Aldrich Syndrome	Recurrent respiratory infections, Recurrent intrapulmonary hemorrhage, Sinusitis, Epistaxis, Abno...	ORPHA:906
Hypercholanemia, Familial 1	Fat malabsorption, Failure to thrive, Rickets, Steatorrhea	OMIM:607748
Medulloblastoma	Cerebellar hemorrhage, Hydrocephalus, Adenomatous colonic polyposis, Progressive macrocephaly, Ne...	ORPHA:616
Generalized Arterial Calcification Of Infancy	Cerebral calcification, Medial calcification of large arteries, Adrenal calcification, Cardiomega...	ORPHA:51608
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial...	ORPHA:1677
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s...	OMIM:134600
Aicardi-Goutières Syndrome	Diabetes mellitus, Cardiomegaly, Hepatosplenomegaly, Micropenis, Hypertrophic cardiomyopathy	ORPHA:51
Adult Syndrome	Finger syndactyly, Absent nipple, Toe syndactyly, Prominent nasal bridge, Abnormal dental morphol...	ORPHA:978
Intellectual Developmental Disorder, Autosomal Dominant 66	Arachnodactyly, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great a...	OMIM:619910
Myopathy, Myofibrillar, 7	Tongue atrophy, Multiple joint contractures, Limited hip extension, Urinary incontinence, Shoulde...	OMIM:617114
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Bronchiectasis, Noncommunicating hydrocephalus, Chr...	OMIM:618699
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Non-midline cleft lip, Meningocele, Depressed nasal ridge, Hip dislocation, Absent nasal septal c...	ORPHA:2003
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Intraventricular hemorrhage, Methylmalonic aciduria, Abnormal heart mo...	ORPHA:79284
Auriculocondylar Syndrome 3	Glossoptosis, Retrognathia, Bifid uvula, Micrognathia	OMIM:615706
Thyrotoxic Periodic Paralysis	Obesity, Increased intramyocellular lipid droplets, Weight loss	ORPHA:79102
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly, Esophageal varix, Pulmonic stenosis, Right ventricular hypertrophy, Um...	OMIM:616028
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs...	OMIM:600740
Hypophosphatemic Bone Disease	Rickets, Short stature, Osteomalacia, Bowing of the legs	OMIM:146350
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Laurin-Sandrow Syndrome	Syndactyly, Underdeveloped nasal alae, Absent radius, Patellar aplasia, Short foot, Hand polydact...	OMIM:135750
Fanconi Anemia, Complementation Group N	Ventricular septal defect, Hypertelorism, Postnatal growth retardation, Short thumb, Microcephaly	OMIM:610832
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Microcoria, Uveal ectropion, Hypoplasia...	OMIM:609049
Cystic Fibrosis	Male infertility, Hepatomegaly, Cor pulmonale, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, ...	OMIM:219700
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co...	OMIM:149730
Superficial Siderosis	Atrophy of the spinal cord, Abnormal spinal cord morphology, Dementia, Cognitive impairment, Memo...	ORPHA:247245
Ectodermal Dysplasia-Skin Fragility Syndrome	Urethral stricture, Chapped lip, Short stature, Abnormal dental morphology, Abnormality of the de...	ORPHA:158668
Glucagonoma	Neoplasm of the pancreas, Intestinal obstruction, Diabetes mellitus, Stomatitis, Elevated circula...	ORPHA:97280
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Tongue fasciculations, Intrinsic hand muscle atrophy, Tongue atrophy	OMIM:620285
Distal Renal Tubular Acidosis	Hyperphosphaturia, Short stature, Osteomalacia, Hypocitraturia, Rickets, Nephrolithiasis, Renal c...	ORPHA:18
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Tongue atrophy, O...	ORPHA:101085
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Lethal Congenital Contracture Syndrome 2	Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Arthrogryposis multiplex congeni...	OMIM:607598
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Cerebral atrophy, Growth delay, Cardiomyopathy, Nephrocalcinosis, Am...	OMIM:616084
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect, Talipes equinovarus	OMIM:209770
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Clubbing of fingers, Prot...	OMIM:175500
Congenital Total Pulmonary Venous Return Anomaly	Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia...	ORPHA:99125
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Flexion contracture, Generalized lipodystrophy, Macr...	OMIM:619127
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis, Joint contracture of the 5th finger	OMIM:619934
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo...	OMIM:616749
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Abnormal spinal cord morphology	ORPHA:88628
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Pili Torti-Onychodysplasia Syndrome	Cleft lip, Palmoplantar keratoderma, Cleft palate, Cutaneous syndactyly	ORPHA:2890
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio...	ORPHA:365
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost...	ORPHA:353253
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Osteomyelitis, Duodenal ulcer, Pneumonia, Bronchitis, Gastritis, Osteomalacia, B...	OMIM:619381
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormality of thyroid physiology, Rickets, Growth delay, Abnormal cerebral wh...	ORPHA:411629
Sacral Defect With Anterior Meningocele	Myeloschisis, Neurogenic bladder, Absence of the sacrum, Myelomeningocele, Meningocele, Hydroceph...	OMIM:600145
Periventricular Nodular Heterotopia 9	Everted upper lip vermilion, Single transverse palmar crease, Periventricular nodular heterotopia...	OMIM:618918
Bile Acid Synthesis Defect, Congenital, 1	Fat malabsorption, Failure to thrive, Rickets, Steatorrhea	OMIM:607765
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Renal cyst	OMIM:109130
Mesomelic Dysplasia, Savarirayan Type	Short stature, Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head	OMIM:605274
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Constricting Bands, Congenital	Encephalocele, Syndactyly, Cleft upper lip, Abnormal lung lobation, Cleft palate, Hand polydactyl...	OMIM:217100
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Osteomalacia, Nephrolithiasis, Nephrocalcinosis, Distal renal tub...	OMIM:179800
Renal Tubular Acidosis Iii	Osteomalacia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Rickets, Nephrocalcinosis	OMIM:267200
Atypical Werner Syndrome	Lipoatrophy, Generalized lipodystrophy, Decreased body weight, Failure to thrive, Hepatic steatos...	ORPHA:79474
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Recurrent respiratory infections, Tongue atrophy, Tongue fasciculations, Dea...	OMIM:211530
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect, Limited hip extension, Flexion contracture, Growth delay, High palate,...	OMIM:614653
Proximal Renal Tubular Acidosis	Mild postnatal growth retardation, Bicarbonaturia, Reduced bone mineral density, Nephrocalcinosis...	ORPHA:47159
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Acrodermatitis Enteropathica	Short stature, Malabsorption, Abnormality of the tongue, Cheilitis, Furrowed tongue, Weight loss,...	ORPHA:37
Neuromuscular Oculoauditory Syndrome	Periventricular heterotopia, Knee flexion contracture, Agenesis of corpus callosum, Multiple rena...	OMIM:618733
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly	ORPHA:2440
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Micrognathia, Cleft upper lip, Patent ductus arteriosus, Cleft palate,...	OMIM:153400
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Enuresis, Increased head ci...	ORPHA:268810
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Juvenile Glaucoma	Abnormal anterior chamber morphology, Abnormality iris morphology	ORPHA:98977
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Craniosynostosis, Oral mucosal blisters, Growth delay, Palmoplantar keratoderma, Smooth tongue, E...	ORPHA:79396
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect, Intestinal malrotation, Intestinal atresia, Hypoplasia of the thymus, ...	ORPHA:436252
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia...	OMIM:192445
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Short stature, Recurrent fractures, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndro...	OMIM:268315
Lelis Syndrome	Mandibular prognathia, Carious teeth, Palmoplantar hyperkeratosis, Furrowed tongue, Hypodontia	ORPHA:140936
Hartnup Disease	Abnormal urinary color, Short stature, Malabsorption, Gingivitis, Glossitis, Neutral hyperaminoac...	ORPHA:2116
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus, Remnants of the hyaloid vascular system	ORPHA:637
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val...	ORPHA:3405
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal muscle weakness in upper limbs, Flexion contracture of finger, Tongue atrophy, Urinary i...	ORPHA:466768
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu...	ORPHA:99050
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega...	ORPHA:75565
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Primary hyperaldosteronism...	OMIM:615474
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu...	ORPHA:99095
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Grange Syndrome	Syndactyly, Bicuspid aortic valve, Recurrent fractures, Carotid artery stenosis, Renovascular hyp...	OMIM:602531
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Small for gestational age, Microvesicular hepatic steatosis, Left ventricular hy...	OMIM:220111
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Erythematous oral mucosa, Recurrent pneumonia, Cor pulmonale, Furrowed tongue, Hematur...	OMIM:158310
Primary Fanconi Renotubular Syndrome	Osteomalacia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa...	ORPHA:3337
Spinocerebellar Ataxia Type 36	Tongue atrophy, Tongue fasciculations	ORPHA:276198
Amoebiasis Due To Free-Living Amoebae	Irritability, Abnormal spinal cord morphology, Confusion	ORPHA:68
Agel Amyloidosis	Tongue atrophy, Proteinuria, Respiratory tract infection, Xerostomia, Stage 5 chronic kidney dise...	ORPHA:85448
Hereditary Folate Malabsorption	Recurrent respiratory infections, Cerebral calcification, Cheilitis, Failure to thrive, Glossitis	ORPHA:90045
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Ventricular septal defect, Short stature, Recurrent fractures, Microcephaly, Metaphys...	OMIM:259770
Spinocerebellar Ataxia 36	Tongue atrophy, Tongue fasciculations	OMIM:614153
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Tongue atrophy, Hand muscle weakness, Areflexia of upper...	ORPHA:99956
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Dilatation of the ventricular cavity, Obesity, Coronary arte...	ORPHA:66529
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypertelorism, Hypoplasia of t...	ORPHA:1134
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Weight loss, Growth delay, Colitis, Steatorrhea	ORPHA:309031
Cardiac Valvular Dysplasia 1	Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s...	OMIM:212093
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Obesity, Right ventricular dilatation, Inflammation of the large intestine, Right ...	ORPHA:70591
Charcot-Marie-Tooth Disease Type 4C	Tongue atrophy, Hammertoe, Hip dysplasia, Tongue fasciculations, Difficulty in tongue movements, ...	ORPHA:99949
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis	ORPHA:54028
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis	OMIM:126320
Imerslund-Gräsbeck Syndrome	Proteinuria, Angular cheilitis, Weight loss, Failure to thrive, Glossitis	ORPHA:35858
Psoriasis 14, Pustular	Oligoarthritis, Geographic tongue, Furrowed tongue	OMIM:614204
Congenital Tracheal Stenosis	Meckel diverticulum, Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypo...	ORPHA:141127
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Schizencephaly, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuos...	OMIM:175780
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Elbow flexion contracture, Knee flexion contracture, Furrowed tongue, Microdontia, Oral leukoplakia	OMIM:148210
Melkersson-Rosenthal Syndrome	Macroglossia, Furrowed tongue, Cheilitis, Oligosacchariduria	ORPHA:2483
Diamond-Blackfan Anemia 12	Ventricular septal defect, Triphalangeal thumb	OMIM:615550
Odontoonychodermal Dysplasia	Palmoplantar hyperkeratosis, Abnormality of primary teeth, Agenesis of permanent teeth, Conical i...	OMIM:257980
Mismatch Repair Cancer Syndrome 1	Adenomatous colonic polyposis, Gray matter heterotopia, Adenocarcinoma of the small intestine, Ad...	OMIM:276300
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Primary Sjögren Syndrome	Abnormal spinal cord morphology, Dementia, Cognitive impairment, Depression	ORPHA:289390
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Macrodactyly, Hand oligodactyly, Hand polydactyly, Arteriovenous fistula	OMIM:149000
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease, Rickets	OMIM:219900
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	OMIM:182250
Eisenmenger Syndrome	Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Clubbing, Aortopulmonar...	ORPHA:97214
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabsorpt...	ORPHA:405
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Laubry-Pezzi Syndrome	Aortic valve prolapse, Abnormal coronary artery morphology, Bicuspid aortic valve, Ventricular se...	ORPHA:99094
Intellectual Developmental Disorder, Autosomal Recessive 78	Microretrognathia, Microcephaly, High palate, Clinodactyly of the 5th finger, Cubitus valgus, Ret...	OMIM:620237
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Plague	Chapped lip, Abnormality of the elbow, Enterocolitis, Endocarditis, Acute infectious pneumonia, A...	ORPHA:707
Homozygous Familial Hypercholesterolemia	Hepatic steatosis	ORPHA:391665
Pachyonychia Congenita 3	Chapped lip, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Palmar hyperkeratosis, Oral l...	OMIM:615726

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype	Allele	Zygosity	Life Stage
Epididymis - MPATH pathological process term developmental dysplasia	Wdr11^em1(IMPC)Mbp	HOM	Early adult
Testis - MPATH pathological process term developmental dysplasia	Wdr11^em1(IMPC)Mbp	HOM	Late adult
Testis - MPATH pathological process term developmental dysplasia	Wdr11^em1(IMPC)Mbp	HOM	Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Wdr11.

No publications found that use IMPC mice or data for Wdr11.

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MGI Allele	Allele Type	Produced
Wdr11^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Wdr11^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Wdr11^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Wdr11 MGI:1920230

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

X-ray

Histopathology

X-ray

MicroCT E18.5

Histopathology

Human diseases caused by Wdr11 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data