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Gene: Wdr11 MGI:1920230

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Gene Summary

Name:
WD repeat domain 11
Synonyms:
2900055P10Rik,  Brwd2,  Wdr11

Order Alleles

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 System Allele Zyg Sex Life Stage P Value
small heart Wdr11em1(IMPC)Mbp HET Late adult 0.00
preweaning lethality, incomplete penetrance Wdr11em1(IMPC)Mbp HOM   Early adult 0.00
decreased exploration in new environment Wdr11em1(IMPC)Mbp HET Early adult 6.21×10-05
iris synechia Wdr11em1(IMPC)Mbp HOM Early adult 8.12×10-05
enlarged seminal vesicle Wdr11em1(IMPC)Mbp HET Late adult 0.00
increased red blood cell distribution width Wdr11em1(IMPC)Mbp HOM   Early adult 3.06×10-06
abnormal skin morphology Wdr11em1(IMPC)Mbp HOM Early adult 0.00
absent adrenal gland Wdr11em1(IMPC)Mbp HOM Late adult 0.00
enlarged kidney Wdr11em1(IMPC)Mbp HET Late adult 0.00
abnormal spinal cord morphology Wdr11em1(IMPC)Mbp HET Early adult 0.00
abnormal skin morphology Wdr11em1(IMPC)Mbp HET Late adult 0.00
absent seminal vesicle Wdr11em1(IMPC)Mbp HOM Late adult 0.00
small heart Wdr11em1(IMPC)Mbp HOM Early adult 0.00
male infertility Wdr11em1(IMPC)Mbp HOM Early adult 0.00
anophthalmia Wdr11em1(IMPC)Mbp HOM Early adult 0.00
enlarged seminal vesicle Wdr11em1(IMPC)Mbp HOM Late adult 0.00
abnormal eye morphology Wdr11em1(IMPC)Mbp HOM Early adult 0.00
hydrometra Wdr11em1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Wdr11em1(IMPC)Mbp HOM Early adult 0.00
improved glucose tolerance Wdr11em1(IMPC)Mbp HET Late adult 4.25×10-05
enlarged heart Wdr11em1(IMPC)Mbp HET Late adult 0.00
abnormal uterus morphology Wdr11em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Wdr11em1(IMPC)Mbp HOM Early adult 0.00
abnormal coat/ hair morphology Wdr11em1(IMPC)Mbp HET Early adult 8.98×10-05
abnormal bone structure Wdr11em1(IMPC)Mbp HOM   Early adult 8.16×10-05
decreased circulating alanine transaminase level Wdr11em1(IMPC)Mbp HET Late adult 9.93×10-05
abnormal kidney morphology Wdr11em1(IMPC)Mbp HET Late adult 0.00
absent seminal vesicle Wdr11em1(IMPC)Mbp HET Late adult 0.00
abnormal heart morphology Wdr11em1(IMPC)Mbp HET Late adult 0.00
abnormal skin morphology Wdr11em1(IMPC)Mbp HET Early 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

54 Images

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X-ray

XRay Images Whole Body Lateral Orientation

18 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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MicroCT E18.5

Embryo reconstruction

2 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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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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Camptodactyly, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Generalized... ORPHA:432
Pituitary Stalk Interruption Syndrome
Primary amenorrhea, Hypothyroidism, Diabetes insipidus, Short stature, Death in infancy, Septo-op... ORPHA:95496
Kallmann Syndrome
Anterior hypopituitarism, Tooth agenesis, Primary amenorrhea, Cleft palate, Reduced bone mineral ... ORPHA:478
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism OMIM:614858

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia OMIM:613571
Holoprosencephaly
Spinal dysraphism, Abnormality of neuronal migration, Anterior hypopituitarism, Median cleft lip,... ORPHA:2162
Pseudotrisomy 13 Syndrome
2-3 toe syndactyly, Holoprosencephaly, Cyclopia, Postaxial hand polydactyly, Polymicrogyria, Vent... OMIM:264480
Microform Holoprosencephaly
Hypothyroidism, Ambiguous genitalia, Holoprosencephaly, Iris coloboma, Cyclopia, Cleft palate, Or... ORPHA:280200
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Lissencephaly, Hypertrophic cardiomyopathy, Alveolar ridge overgrowth, Cleft palate,... OMIM:612938
Trisomy 18
Camptodactyly of finger, Non-midline cleft lip, Cachexia, Narrow pelvis bone, Holoprosencephaly, ... ORPHA:3380
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Metatarsus valgus, Abnormality of neuronal migration, Ventriculomegaly, ... ORPHA:261236
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Ventriculomegaly, Small pituitary gland, Primary amen... ORPHA:398079
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia OMIM:201710
Holoprosencephaly-Postaxial Polydactyly Syndrome
Ambiguous genitalia, Abnormal cardiac septum morphology, Micrognathia, Thyroid hypoplasia, Holopr... ORPHA:2166
Magel2-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Flexion contracture, Ventriculomegaly, Small pituitar... ORPHA:398069
Acrocallosal Syndrome
Tapered finger, Everted upper lip vermilion, Wide nasal bridge, Coloboma, Toe syndactyly, Abnorma... OMIM:200990
Kleefstra Syndrome Due To 9Q34 Microdeletion
Cerebral cortical atrophy, Ventriculomegaly, Abnormal testis morphology, Abnormal cardiac septum ... ORPHA:96147
Ritscher-Schinzel Syndrome 2
Patent ductus arteriosus, Ventricular septal defect, Cerebellar hypoplasia, Clinodactyly, Camptod... OMIM:300963
Solitary Median Maxillary Central Incisor
Cleft upper lip, Decreased response to growth hormone stimulation test, Anophthalmia, Short statu... OMIM:147250
Holoprosencephaly 5
High palate, Syntelencephaly, Deep philtrum, Lateral ventricle dilatation, Hypotelorism, Hydrocep... OMIM:609637
Ritscher-Schinzel Syndrome 1
Coloboma, Micrognathia, Cleft palate, Double outlet right ventricle, Ventricular septal defect, H... OMIM:220210
Triploidy
Meningocele, Non-midline cleft lip, Ambiguous genitalia, Abnormal cardiac septum morphology, Micr... ORPHA:3376
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cerebral cortical atrophy, High palate, Furrowed tongue, Short stature, Micrognathia, Hypoteloris... ORPHA:1387
Pallister-Hall Syndrome
Precocious puberty, Short 4th metacarpal, Toe syndactyly, Decreased circulating cortisol level, D... OMIM:146510
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Recombinant Chromosome 8 Syndrome
Ventriculomegaly, Micrognathia, Camptodactyly, Gingival overgrowth, Postnatal growth retardation,... OMIM:179613
Chromosome 1Q41-Q42 Deletion Syndrome
Ventriculomegaly, Supernumerary nipple, Pulmonary hypoplasia, Holoprosencephaly, Cleft palate, Ta... OMIM:612530
Tonne-Kalscheuer Syndrome
Convex nasal ridge, Wide nasal bridge, Micrognathia, Pulmonary hypoplasia, Prominent nose, Hypert... OMIM:300978
49,Xxxxy Syndrome
Coxa valga, Delayed eruption of teeth, Taurodontia, Hip dislocation, Elbow dislocation, Holoprose... ORPHA:96264
Trisomy 1Q
Camptodactyly of finger, Ambiguous genitalia, Ventriculomegaly, Toe syndactyly, Abnormal rib morp... ORPHA:261344
Kleefstra Syndrome 1
Everted lower lip vermilion, Talipes equinovarus, Conotruncal defect, Macroglossia, Hypertelorism... OMIM:610253
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Distal Monosomy 10P
Non-midline cleft lip, Convex nasal ridge, Abnormality of the elbow, Wide nasal bridge, Ectopic a... ORPHA:1580
Functioning Gonadotropic Adenoma
Impotence, Anterior hypopituitarism, Decreased female libido, Oligospermia, Increased circulating... ORPHA:91348
Ethanolaminosis
Cardiomegaly OMIM:227150
Chromosome 6Q11-Q14 Deletion Syndrome
High palate, Long philtrum, Short stature, Primary microcephaly, Micrognathia, Bilateral cryptorc... OMIM:613544
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomega... OMIM:614480
Mosaic Trisomy 9
Camptodactyly of finger, Ventriculomegaly, Micrognathia, Biparietal narrowing, Hip dislocation, E... ORPHA:99776
15Q24 Microdeletion Syndrome
Coloboma, Smooth philtrum, Intestinal atresia, Postnatal growth retardation, Hypertelorism, Narro... ORPHA:94065
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Cerebral cortical atrophy, Ulnar deviation of the hand or of fingers of the hand, ... OMIM:214100
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Distal Monosomy 13Q
Aplasia/Hypoplasia affecting the eye, Ambiguous genitalia, Encephalocele, Aplasia/Hypoplasia of t... ORPHA:1590
Trisomy 13
Aplasia/Hypoplasia of the iris, Median cleft lip, Iris coloboma, Abnormality of the ureter, Posta... ORPHA:3378
Ring Chromosome 21 Syndrome
Diabetes insipidus, Small hand, Short stature, Infertility, Clinodactyly, Azoospermia, Syndactyly... ORPHA:1445
Endocrine-Cerebroosteodysplasia
Thick upper lip vermilion, Ambiguous genitalia, Ventriculomegaly, Wide nasal bridge, Micrognathia... OMIM:612651
Distal Monosomy 7Q36
Non-midline cleft lip, Symphalangism affecting the phalanges of the hand, Wide mouth, Short statu... ORPHA:1636
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Tapered finger, Coxa valga, Radial deviation of finger, Postnatal growth retardation, Talipes equ... OMIM:301040
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Ambiguous genitalia, Cleft upper lip, Depressed nasal ridge, Joint contracture of the hand, Anter... OMIM:601016
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, 2-3 toe syndactyly, Mandibular prognathia, High palate, Small hand, Short stature... ORPHA:284180
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Absent nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia involving the nose, Mandib... ORPHA:990
Xq27.3Q28 Duplication Syndrome
Deeply set eye, Small hand, Hypogonadism, Short stature, Premature ovarian insufficiency, Decreas... ORPHA:261483
Orofaciodigital Syndrome I
Polydactyly, Bifid tongue, Wide nasal bridge, Median cleft lip, Radial deviation of finger, Alveo... OMIM:311200
Fontaine Progeroid Syndrome
Convex nasal ridge, Pneumothorax, Recurrent aspiration pneumonia, Microdontia, Micrognathia, Hypo... OMIM:612289
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Long philtrum, Birth length less than 3rd ... OMIM:300148
Cornelia De Lange Syndrome 5
Ventriculomegaly, Toe syndactyly, Micrognathia, Limited elbow extension, Cleft palate, Postnatal ... OMIM:300882
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... OMIM:617610
Pde4D Haploinsufficiency Syndrome
Short phalanx of finger, Micrognathia, Prominent nasal tip, Broad hallux, Postnatal growth retard... ORPHA:439822
Rudiger Syndrome
Ureterovesical stenosis, Flexion contracture, Bicornuate uterus, Death in infancy, Short digit, H... OMIM:268650
Microphthalmia, Syndromic 12
Retrognathia, Anophthalmia, Wide nasal bridge, Bicornuate uterus, Ventricular septal defect, Micr... OMIM:615524
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Flexion contracture, Decreased circulating dehydroepiandrosterone-sulfate co... ORPHA:95699
Syndromic X-Linked Intellectual Disability 7
Tapered finger, Hypogonadism, Short stature, Abnormality of dental morphology, Hypoplasia of peni... ORPHA:85274
Pallister-Hall Syndrome
Atrioventricular canal defect, Ambiguous genitalia, Precocious puberty, Gonadotropin deficiency, ... ORPHA:672
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Pericardial effusion, Micrognathia, Camptodactyly, Lissencephaly, Pleural effus... OMIM:617822
Temple Syndrome
Precocious puberty, Flexion contracture, Micrognathia, Bifid uvula, Cleft palate, Hydrocephalus, ... OMIM:616222
Jacobsen Syndrome
Flexion contracture, Micrognathia, Holoprosencephaly, Iris coloboma, Ventricular septal defect, H... OMIM:147791
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Pulmonary sequestration, Ventricular septal defect, Short stature, Late... OMIM:618330
Prader-Willi Syndrome Due To Translocation
Cerebral cortical atrophy, Lateral ventricle dilatation, Micrognathia, Bifid uvula, Everted lower... ORPHA:177907
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Anophthalmia, Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:616428
Nephronophthisis 16
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hypertrophic cardio... OMIM:615382
Smith-Lemli-Opitz Syndrome
Hip subluxation, 2-3 toe syndactyly, Ambiguous genitalia, Precocious puberty, Hypoplasia of the f... OMIM:270400
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... OMIM:615395
1Q41Q42 Microdeletion Syndrome
Underdeveloped nasal alae, Deeply set eye, Short stature, Hypotelorism, Submucous cleft hard pala... ORPHA:250999
Hydrolethalus
Retrognathia, Abnormal fallopian tube morphology, Deeply set eye, Anophthalmia, Gingival cleft, M... ORPHA:2189
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Short toe, Hyperinsulinemia, Short stature, Secondary amenorrhea, Decreased testicular size, Type... ORPHA:3085
Smith-Lemli-Opitz Syndrome
2-3 toe syndactyly, Ambiguous genitalia, Atrioventricular canal defect, Bifid tongue, Ventriculom... ORPHA:818
Charge Syndrome
Aortic arch aneurysm, Abnormal cardiac septum morphology, Delayed eruption of teeth, Anterior hyp... ORPHA:138
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Non-midline cleft lip, Spinal dysraphism, Wide nasal bridge, Micrognathia, Holoprose... ORPHA:1908
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Camptodactyly of finger, Hypoplasia of the frontal lobes, Multiple joint contractures, Wide nasal... ORPHA:468631
1Q21.1 Microduplication Syndrome
Hip dysplasia, Hydrocephalus, Hip dislocation, Macrocephaly, Failure to thrive, Hypospadias, Hype... ORPHA:250994
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Anophthalmia, Cleft ala nasi, Orbital encephalocele, Agenesis of corpus ... OMIM:164180
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Toe syndactyly, Micrognathia, Short palm, Hydrocephalus, Short nose, Hypertelorism, Cryptorchidis... ORPHA:171839
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Short Stature-Micrognathia Syndrome
2-3 toe syndactyly, Decreased body weight, Coxa valga, Micrognathia, Cleft palate, Ventricular se... OMIM:617164
Holoprosencephaly 3
Hydronephrosis, Single naris, Ventriculomegaly, Proboscis, Hypotelorism, Bifid uvula, Central dia... OMIM:142945
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Wide nasal bridge, Pulmonary hypoplasia, Overlapping toe, Smooth philtrum, Cutaneous syndactyly, ... OMIM:618316
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the philtrum, Ambiguous genitalia, Deeply set eye, Hypotelorism, Microretrognathia... ORPHA:276422
Microphthalmia With Limb Anomalies
Toe syndactyly, Hip dislocation, Metatarsal synostosis, Unilateral cryptorchidism, 2-3 toe cutane... OMIM:206920
Xk Aprosencephaly Syndrome
Abnormal nostril morphology, Ventricular septal defect, Abnormal morphology of the radius, Anal a... ORPHA:3469
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Osteopenia, Menorrhagia, Oligomenorrh... ORPHA:397685
Pallister-Hall-Like Syndrome
Anterior hypopituitarism, Micrognathia, Toe syndactyly, Hip dislocation, Pulmonary hypoplasia, Me... OMIM:241800
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Metatarsus valgus, Mandibular prognathia, Short stature, Toe syndactyly, Micrognathia, Aplasia/Hy... ORPHA:3082
3C Syndrome
Atrioventricular canal defect, Abnormality of neuronal migration, Wide nasal bridge, Ectopic anus... ORPHA:7
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Raine Syndrome
Microdontia, Increased bone mineral density, Micrognathia, Pulmonary hypoplasia, Cleft palate, Gi... OMIM:259775
Semilobar Holoprosencephaly
Central hypothyroidism, Flexion contracture, Bifid uvula, Hip dislocation, Median cleft lip, Cycl... ORPHA:220386
Alobar Holoprosencephaly
Central hypothyroidism, Flexion contracture, Bifid uvula, Hip dislocation, Median cleft lip, Cycl... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central hypothyroidism, Flexion contracture, Bifid uvula, Hip dislocation, Median cleft lip, Cycl... ORPHA:93926
Lobar Holoprosencephaly
Central hypothyroidism, Flexion contracture, Bifid uvula, Hip dislocation, Median cleft lip, Cycl... ORPHA:93924
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cerebral cortical atrophy, Ventriculomegaly, Wide nasal bridge, Micrognathia, Supernumerary nippl... OMIM:618454
Microcephaly 26, Primary, Autosomal Dominant
Extra-axial cerebrospinal fluid accumulation, Patent foramen ovale, Long philtrum, Wide nasal bri... OMIM:619179
Meckel Syndrome, Type 1
Camptodactyly of finger, Ventriculomegaly, Ambiguous genitalia, female, Abnormal cardiac septum m... OMIM:249000
Degcags Syndrome
Polydactyly, Ambiguous genitalia, Ventriculomegaly, Toe syndactyly, Micrognathia, Smooth philtrum... OMIM:619488
Halothane Hepatitis
Hepatitis, Viral hepatitis, Jaundice, Obesity OMIM:234350
Chromosome 3Q13.31 Deletion Syndrome
High palate, Ventriculomegaly, Shawl scrotum, Decreased testicular size, Short philtrum, Alobar h... OMIM:615433
Thanatophoric Dysplasia Type 2
Patent ductus arteriosus, Encephalocele, Abnormality of neuronal migration, Short stature, Ventri... ORPHA:93274
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Ambiguous genitalia, Pulmonary hypoplasia, Median cleft lip, Holoprosencephaly, ... OMIM:269860
Meningioma
Enlarged pituitary gland, Impotence, Decreased circulating cortisol level, Secondary growth hormo... ORPHA:2495
Xp22.3 Microdeletion Syndrome
Decreased fertility, Aplasia/Hypoplasia affecting the eye, Ectopic anus, Secondary amenorrhea, Sh... ORPHA:1643
Proboscis Lateralis
Abnormal paranasal sinus morphology, Ventriculomegaly, Optic nerve hypoplasia, Duplication of ren... ORPHA:141099
Seckel Syndrome 7
Central hypothyroidism, Prominent nose, Abnormal carpal morphology, Short middle phalanx of the 5... OMIM:614851
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Contractures of the large joints, Mandibular prognathia, Abnormal atrioventricula... ORPHA:324410
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Ventriculomegaly, Abdominal obesity, Polymicrogyria, Macroglossia, Abnormal cerebral white matter... OMIM:300354
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Short foot, Small hand... ORPHA:254516
Ring Chromosome 22 Syndrome
2-3 toe syndactyly, Azoospermia, Pleural effusion, Wide nasal base, Protruding tongue, Absent sep... ORPHA:1446
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Patent ductus arteriosus, Anophthalmia, Ventricular septal defect, Esophageal a... ORPHA:77298
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... OMIM:228300
Non-Distal Trisomy 13Q
Aplasia/Hypoplasia affecting the eye, Arachnodactyly, High palate, Long philtrum, Micrognathia, H... ORPHA:1702
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Global brain atrophy, Coxa valga, Ventriculomegaly, Optic nerve hypoplasia, Postaxial hand polyda... OMIM:301056
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Aplasia/Hypoplasia of the cerebellum, Ambiguous genitalia, Abnormality of neuronal migration, Rec... ORPHA:2772
Ritscher-Schinzel Syndrome 4
Tapered finger, Wide nasal bridge, Hip dislocation, Narrow palate, Hip dysplasia, Hypertelorism, ... OMIM:619435
Bardet-Biedl Syndrome 5
Polydactyly, Hypogonadism, External genital hypoplasia, Syndactyly, Brachydactyly, Obesity, Micro... OMIM:615983
Developmental And Epileptic Encephalopathy 80
Tapered finger, Ventriculomegaly, Wide nasal bridge, Micrognathia, Smooth philtrum, Talipes equin... OMIM:618580
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Insulin resistance, Polycystic ovaries, Insulin-res... ORPHA:90301
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Tapered finger, Short foot, Microcephaly, Cryptorchidism, Obesity OMIM:309585
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Biemond Syndrome Type 2
Coloboma, Hypogonadism, Short stature, Hydrocephalus, Delayed puberty, Hypospadias, Preaxial poly... ORPHA:141333
Walker-Warburg Syndrome
Metatarsus valgus, Abnormality of neuronal migration, Ventriculomegaly, Bifid uvula, Lissencephal... ORPHA:899
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hypothyroidism, Hypoplasia of the brainstem, Short stature, Small for gestational age, Micrognath... OMIM:616817
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Convex nasal ridge, Deviation of... ORPHA:1227
Short Stature, Microcephaly, And Endocrine Dysfunction
Hypothyroidism, Convex nasal ridge, Ventriculomegaly, Limb undergrowth, Disproportionate short-li... OMIM:616541
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Wide nasal bridge, Aplasia of the phalanges of the 3rd toe, Dilated cardiomyo... ORPHA:2229
Meckel Syndrome, Type 8
Polydactyly, Ambiguous genitalia, Cleft upper lip, Encephalocele, Anophthalmia, Depressed nasal r... OMIM:613885
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Holoprosencephaly 9
Optic nerve hypoplasia, Holoprosencephaly, Postaxial hand polydactyly, Cleft palate, Bilateral cl... OMIM:610829
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Camptodactyly, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Generalized... ORPHA:432
Koolen-De Vries Syndrome
Ventriculomegaly, Hip dislocation, Everted lower lip vermilion, Slender finger, Cleft palate, Aor... OMIM:610443
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Genu varum, Gray matter heterotopia, Mandibular prognathia, Abnormality of neuronal migration, Si... OMIM:604317
Periventricular Nodular Heterotopia 7
2-3 toe syndactyly, Micrognathia, Periventricular nodular heterotopia, Elbow contracture, Contrac... OMIM:617201
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Aplasia/Hypoplasia of the thumb, Aplasia of the nose, Abnormality of neuronal... ORPHA:3186
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypothyroidism, Decreased body weight, Primary microcephaly, Micrognathia, Slender finger, Propor... ORPHA:391408
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... ORPHA:488191
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Coloboma, Ventriculomegaly, Micrognathia, Smooth philtrum, Furrowed tongue, Choanal atresia, Pate... OMIM:616975
Holoprosencephaly 14
Ventriculomegaly, Median cleft lip, Holoprosencephaly, Cyclopia, Cleft palate, Double outlet righ... OMIM:619895
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short 4th metacarpal, Short stature, High, narrow palate, Mitral valve prolapse, Hydrocephalus, A... ORPHA:2183
48,Xxyy Syndrome
Ventriculomegaly, Delayed eruption of teeth, Taurodontia, Elbow dislocation, Cleft palate, Abnorm... ORPHA:10
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Wide nasal bridge, Broad hallux, Postaxial hand polydactyly, Preaxial foot poly... OMIM:175700
Luscan-Lumish Syndrome
Irregular menstruation, Mandibular prognathia, Advanced ossification of carpal bones, Ventriculom... OMIM:616831
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:611638
Short Syndrome
Underdeveloped nasal alae, Dental malocclusion, Rieger anomaly, Deeply set eye, Wide nasal bridge... OMIM:269880
Borjeson-Forssman-Lehmann Syndrome
Short toe, Tapered finger, Deeply set eye, Short stature, Shortening of all distal phalanges of t... OMIM:301900
Holoprosencephaly-Caudal Dysgenesis Syndrome
Radial club hand, Abnormal cerebral vascular morphology, Abnormal morphology of the radius, Media... ORPHA:2165
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome, Adrenal hyperplasia OMIM:103900
Hadziselimovic Syndrome
Ventricular hypertrophy, High palate, Ventricular septal defect, Pulmonary artery atresia, Short ... OMIM:612946
Fibrous Dysplasia Of Bone
Thin bony cortex, Abnormal mandible morphology, Hyperpituitarism, Osteolysis, Abnormal zygomatic ... ORPHA:249
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size ORPHA:393
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology, Agenesis ... ORPHA:2228
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Wilson-Turner Syndrome
Tapered finger, Small hand, Short stature, Deeply set eye, Micrognathia, Malar prominence, Thin u... ORPHA:3459
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Micrognathia, Holoprosencephaly, Uterus didelphys, Polymicrogyria, Gra... OMIM:618820
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Global brain atrophy, Short 5th finger, Truncus arteriosus, Wide n... ORPHA:508488
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Polydactyly, Deeply set eye, Hypogonadism, Clinodactyly, Depressed nasal brid... OMIM:615984
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Abnormal pleura morphology, Cerebr... ORPHA:2570
Carpenter Syndrome 1
Precocious puberty, Coxa valga, Toe syndactyly, Micrognathia, Flared iliac wing, Camptodactyly, M... OMIM:201000
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Patent ductus arteriosus, 2-3 toe syndactyly, Double outlet right ventricle, High palate, Wide na... ORPHA:3304
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism, Tapered finger, Macrocephaly, Holoprosencephaly, Limited elbow extension OMIM:300706
Combined Pituitary Hormone Deficiencies, Genetic Forms
Polydactyly, Optic nerve hypoplasia, Holoprosencephaly, Pituitary dwarfism, Ectopic anterior pitu... ORPHA:95494
Trisomy 18P
Underdeveloped nasal alae, Wide nasal bridge, Short stature, Abnormal finger morphology, Microgna... ORPHA:1715
Mccune-Albright Syndrome
Precocious puberty, Abnormal testis morphology, Hyperphosphaturia, Hyperplasia of the Leydig cell... ORPHA:562
Charge Syndrome
Hypothyroidism, Gonadotropin deficiency, Coloboma, Micrognathia, Secundum atrial septal defect, P... OMIM:214800
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Absence of renal corticomedullary ... OMIM:602088
Hepatorenocardiac Degenerative Fibrosis
Renal interstitial fibrosis, Enlarged kidney, Hepatosplenomegaly, Renal cyst, Reduced renal corti... OMIM:619902
Emanuel Syndrome
Multiple joint contractures, Ectopic anus, Delayed eruption of teeth, Truncus arteriosus, Microgn... ORPHA:96170
Hyperparathyroidism, Transient Neonatal
Ventriculomegaly, Wide nasal bridge, Short femur, Ovarian cyst, Recurrent fractures, Short ribs, ... OMIM:618188
Down Syndrome
Hypothyroidism, Microdontia, Decreased fertility, Narrow palate, Type II diabetes mellitus, Macro... ORPHA:870
Multiple Pterygium-Malignant Hyperthermia Syndrome
Camptodactyly of finger, Abnormal mandible morphology, Prominence of the zygomatic bone, Tapered ... ORPHA:2215
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... OMIM:613496
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Mandibular prognathia, Overgrowth of external ge... ORPHA:528
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Long philtrum, Wide nasal bridge, Ventriculomegaly, Ulnar deviation of the wrist, Micrognathia, A... OMIM:618577
Pituitary Stalk Interruption Syndrome
Primary amenorrhea, Hypothyroidism, Diabetes insipidus, Short stature, Death in infancy, Septo-op... ORPHA:95496
Mosaic Variegated Aneuploidy Syndrome
Subvalvular aortic stenosis, Hypothyroidism, Ambiguous genitalia, Ventriculomegaly, Micrognathia,... ORPHA:1052
Distal Monosomy 10Q
Tapered finger, Wide nasal bridge, Lateral ventricle dilatation, Micrognathia, Hip dislocation, S... ORPHA:96148
Chromosome 13Q14 Deletion Syndrome
Micrognathia, Hip dislocation, Supernumerary nipple, Everted lower lip vermilion, Overlapping toe... OMIM:613884
Crossed Polysyndactyly
Abnormality of the philtrum, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Hypoplasia of pe... ORPHA:2935
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Non-midline cleft lip, Abnormality of the philtrum, Ventricular septal defect, Short stature, Bip... ORPHA:1770
Meckel Syndrome 14
Retrognathia, Ambiguous genitalia, Pneumothorax, Micrognathia, Polycystic kidney dysplasia, Pulmo... OMIM:619879
Holoprosencephaly 7
Wide nasal bridge, Lobar holoprosencephaly, Median cleft lip, Holoprosencephaly, Iris coloboma, H... OMIM:610828
Acrodysostosis 1 With Or Without Hormone Resistance
Short phalanx of finger, Delayed eruption of teeth, Epiphyseal stippling, Mild postnatal growth r... OMIM:101800
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Male pseudohermaphroditism, Adrenogenital syndrome, Ambiguous genitalia, Adrenal hyperplasia OMIM:202110
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Bifid uvula, Smooth philtrum, Arthrogryposis multiplex congenita, Rocker bottom foot, Hypoplasia ... OMIM:618622
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... OMIM:615631
19P13.12 Microdeletion Syndrome
Hypothyroidism, Precocious puberty, Ventriculomegaly, Cleft palate, Deep palmar crease, Short pal... ORPHA:254346
14Q22Q23 Microdeletion Syndrome
Short 4th metacarpal, Ventriculomegaly, Toe syndactyly, Micrognathia, Short palm, Diabetes insipi... ORPHA:264200
Ring Chromosome 7 Syndrome
Cerebral cortical atrophy, Short 5th finger, Ventriculomegaly, Wide nasal bridge, Bifid uvula, Ho... ORPHA:1449
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Short 4th metacarpal, Hallux valgus, Ambiguo... ORPHA:1772
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Primary amenorrhea, Cleft upper lip, Hyposmia, Finger joint hypermobility, Unilateral renal agene... OMIM:244200
Acrootoocular Syndrome
Delayed eruption of teeth, Grayish enamel, Micrognathia, Cutaneous syndactyly, Short toe, Supernu... ORPHA:2980
Harrod Syndrome
Dental malocclusion, Arachnodactyly, Multicystic kidney dysplasia, High palate, Cerebral cortical... ORPHA:2115
Mosaic Variegated Aneuploidy Syndrome 2
Subvalvular aortic stenosis, Hypothyroidism, Micrognathia, Ventricular septal defect, Atrial sept... OMIM:614114
Donohue Syndrome
Hyperinsulinemia, Precocious puberty, Wide mouth, Thick lower lip vermilion, Long penis, Severe f... OMIM:246200
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Convex nasal ridge, High palate, Broad secondary alveolar ridge, Wide nasal bridge, Short stature... ORPHA:3369
Williams-Beuren Region Duplication Syndrome
Patent ductus arteriosus, High palate, Decreased response to growth hormone stimulation test, Sho... OMIM:609757
Holoprosencephaly 2
Aplasia of the nasal bone, Bifid uvula, Holoprosencephaly, Iris coloboma, Cyclopia, Bilateral cle... OMIM:157170
Congenital Disorder Of Glycosylation, Type Iia
Coxa valga, Everted lower lip vermilion, Gingival overgrowth, Postnatal growth retardation, Ventr... OMIM:212066
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Periventricular heterotopia, Ventricular septal defect, Ventriculomegal... OMIM:618974
Filippi Syndrome
Ambiguous genitalia, Decreased body weight, Wide nasal bridge, Microdontia, Cutaneous syndactyly,... OMIM:272440
Atkin-Flaitz Syndrome
Macroorchidism, Genu valgum, Tapered finger, Short stature, Prominent median palatal raphe, Exagg... OMIM:300431
Bardet-Biedl Syndrome 16
Polydactyly, Recurrent respiratory infections, Hypogonadism, Short stature, External genital hypo... OMIM:615993
Cerebrooculonasal Syndrome
Ventriculomegaly, Optic nerve hypoplasia, Iris coloboma, Postaxial hand polydactyly, Cleft palate... OMIM:605627
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Double outlet right ventricle, Prominent nose, Decreased body weight, W... OMIM:614886
Microphthalmia, Syndromic 2
Hypothyroidism, 2-3 toe syndactyly, Flexion contracture, Decreased body weight, Delayed eruption ... OMIM:300166
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
High palate, Pierre-Robin sequence, Wide nasal bridge, Short stature, Deeply set eye, Micrognathi... OMIM:613604
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal urine potassium concentration, Adrenocorticotropic hormone excess, Decreased circulating... ORPHA:289548
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:766
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal urine potassium concentration, Adrenocorticotropic hormone excess, Decreased circulating... ORPHA:168558
Marshall-Smith Syndrome
Retrognathia, Increased susceptibility to fractures, Bowing of the long bones, Ventriculomegaly, ... ORPHA:561
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
2-3 toe syndactyly, Ventriculomegaly, Wide nasal bridge, Lobar holoprosencephaly, Smooth philtrum... OMIM:614701
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Coloboma, Optic nerve hypoplasia, Postnatal growth retardation, Vertebral f... OMIM:206900
Chung-Jansen Syndrome
High palate, Long philtrum, Tapered finger, Deeply set eye, Micrognathia, Hip dysplasia, Short ph... OMIM:617991
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatosplenomegaly, Hepatic steatosis, Lipodystrophy, Genera... OMIM:612526
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Spina bifida, Hydrocepha... ORPHA:945
Microphthalmia With Limb Anomalies
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Postaxial hand pol... ORPHA:1106
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Micrognathia, Bifid uvula, Cleft palate, Postnatal growth retardation, Narrow... ORPHA:96184
Anemia, Congenital Dyserythropoietic, Type Iv
Splenomegaly, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells... OMIM:613673
Maternal Hyperthermia-Induced Birth Defects
Aplasia/Hypoplasia affecting the eye, Abnormality of neuronal migration, Short stature, Hypoplasi... ORPHA:2216
Aa Amyloidosis
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Renal amyloidosis, Abnormality of the k... ORPHA:85445
Ring Chromosome Y Syndrome
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Abno... ORPHA:261529
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia, Micropenis, Crypt... OMIM:202150
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Micrognathia, Hip dislocation, Dislocated radial head, Narrow greater sciatic notch, Talipes equi... OMIM:602471
Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Ventriculomegaly, Wide na... ORPHA:398073
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Mandibular prognathia, Prominent nose, Ventriculomegaly, Deeply set eye, Microphallus, Cerebellar... OMIM:300486
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anemia o... ORPHA:67044
Fg Syndrome Type 1
Ventriculomegaly, Abnormal large intestine morphology, Micrognathia, Optic nerve hypoplasia, Smal... ORPHA:93932
Chromosome Xq27.3-Q28 Duplication Syndrome
Deeply set eye, Small hand, Hypogonadism, Short stature, Decreased testicular size, Small for ges... OMIM:300869
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Nodular goiter, Osteolysis, Iris coloboma, Increased susceptibility to fract... ORPHA:371428
Preeclampsia
Increased body mass index, Small for gestational age, Acute kidney injury, Type I diabetes mellit... ORPHA:275555
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Tapered finger, Ventriculomegaly, Wide nasal bridge, Bifid uvula, Hip dislocation, Smooth philtru... OMIM:300968
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Ventriculomegaly, Wide nasal bridge, Micrognathia, Pulmonary hypoplasia, Sho... OMIM:616897
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Thyroid hypoplasia, Optic nerve hypoplasia, Pituitary dwarfism, Decreased circulating T4 concentr... ORPHA:226307
Bardet-Biedl Syndrome 10
Polydactyly, Hypogonadism, Renal cyst, Renal insufficiency, Obesity OMIM:615987
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Coloboma, Thick corpus callosum, Thin vermilion border, Gingival overgrowth, Vesicoureteral reflu... ORPHA:464288
Emanuel Syndrome
Truncus arteriosus, Ventriculomegaly, Micrognathia, Recurrent sinusitis, Cleft palate, Broad jaw,... OMIM:609029
Glycogen Storage Disease Vi
Increased hepatic glycogen content, Failure to thrive in infancy, Elevated hepatic transaminase, ... OMIM:232700
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Tapered finger, Wide nasal bridge, Micrognathia, Radial deviation of finger, Slender finger, Tali... OMIM:309580
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Convex nasal ridge, Delayed eruption of teeth, Micrognathia, Palmoplan... OMIM:601812
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Micrognathia, Dislocated radial head, Bilateral talipes equinovarus, Arthrogryposis multiplex con... OMIM:619512
Townes-Brocks Syndrome 1
Hypothyroidism, 2-3 toe syndactyly, 2-4 finger syndactyly, Clinodactyly of the 5th toe, Metatarsa... OMIM:107480
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Anemia, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... OMIM:616860
Mehmo Syndrome
Tapered finger, External genital hypoplasia, Hypoplasia of penis, Diabetes mellitus, Downturned c... ORPHA:85282
Central Precocious Puberty
Isosexual precocious puberty, Hypothalamic hamartoma, Premature thelarche, Hydrocephalus, Proport... ORPHA:759
Congenital Disorder Of Glycosylation, Type Iie
Primary microcephaly, Micrognathia, Secundum atrial septal defect, Smooth philtrum, Short nose, P... OMIM:608779
Culler-Jones Syndrome
Diabetes insipidus, Cleft upper lip, Anterior pituitary hypoplasia, Hypogonadism, Short stature, ... OMIM:615849
Narcolepsy Type 1
Obesity ORPHA:2073
Diabetic Embryopathy
Aplasia/Hypoplasia of the cerebellum, Hydronephrosis, Aplasia/Hypoplasia affecting the eye, Spina... ORPHA:1926
Ataxia-Telangiectasia
Abnormal testis morphology, Short stature, Aplasia/Hypoplasia of the thymus, Type II diabetes mel... ORPHA:100
46,Xx Gonadal Dysgenesis
Decreased fertility, Ambiguous genitalia, Arachnodactyly, Decreased serum estradiol, Short statur... ORPHA:243
Microphthalmia, Syndromic 5
Anophthalmia, Short stature, Coloboma, Joint laxity, Optic nerve hypoplasia, Ectopic posterior pi... OMIM:610125
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Abnormality of the philtrum, Recurrent fractures, Hypogonadism, Short fo... ORPHA:3409
Orofaciodigital Syndrome Xiv
Bifid tongue, Micrognathia, Broad hallux, Holoprosencephaly, Postaxial hand polydactyly, Cleft pa... OMIM:615948
Proteus-Like Syndrome
Mandibular prognathia, Hydrocephalus, Communicating hydrocephalus, Macrocephaly, Venous insuffici... ORPHA:2969
Leydig Cell Hypoplasia
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... ORPHA:755
Intellectual Developmental Disorder, Autosomal Recessive 5
Underdeveloped nasal alae, Thick upper lip vermilion, Prominent nose, Wide nasal bridge, Short st... OMIM:611091
Trigonocephaly 1
Long philtrum, Wide nasal bridge, Craniosynostosis, Long penis, Short nose, Meckel diverticulum, ... OMIM:190440
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity, Increased adipose tissue ORPHA:71529
Cutis Laxa, Autosomal Recessive, Type Iiia
Narrow nasal ridge, Short stature, Talipes equinovarus, Hip dislocation, Joint hypermobility, Add... OMIM:219150
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Everted lower lip vermilion, Hypoplasia of the uterus, Short nose, Del... OMIM:615866
Neu-Laxova Syndrome
Ambiguous genitalia, Flexion contracture, Abnormality of neuronal migration, Ventriculomegaly, Mi... ORPHA:2671
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Short foot, Small hand, Micrognathia, Clinodactyly, Relative macrocephaly, Do... ORPHA:254525
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... ORPHA:280356
Holoprosencephaly 13, X-Linked
Micrognathia, Median cleft lip, Optic nerve hypoplasia, Cyclopia, Cleft palate, Patent foramen ov... OMIM:301043
Craniofacial Conodysplasia
Spinal cord compression ORPHA:85168
X-Linked Intellectual Disability, Snyder Type
Cerebral edema, Camptodactyly, Everted lower lip vermilion, Megalencephaly, Smooth philtrum, Clef... ORPHA:3063
Fraser Syndrome 1
Midline nasal groove, Wide nasal bridge, Abnormality of the anus, Pulmonary hypoplasia, Cleft pal... OMIM:219000
Coffin-Siris Syndrome 1
Conical tooth, Coxa valga, Delayed eruption of teeth, Microdontia, Spina bifida occulta, Dislocat... OMIM:135900
Fanconi Anemia, Complementation Group D2
Aplasia of the 1st metacarpal, Absent thumb, Esophageal atresia, Hydrocephalus, Partial duplicati... OMIM:227646
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Cone-shaped epiphysis, Abnormal finger morphology, Large iliac wing, Abnor... ORPHA:2511
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Ambiguous genitalia, Absent scrotum, Elevated circulating 17-hydroxyprogesterone concentration, S... OMIM:201810
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Abnormality of the elbow, Deep philtrum, Short stature, Thick lower lip vermilion, Hydrocephalus,... ORPHA:2701
Meckel Syndrome
Ambiguous genitalia, Aplasia/Hypoplasia of the iris, Micrognathia, Lobar holoprosencephaly, Posta... ORPHA:564
Cranioectodermal Dysplasia
Rhizomelia, Abnormal metaphysis morphology, Finger syndactyly, Microdontia, Hypodontia, Taurodont... ORPHA:1515
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Cerebral cortical atrophy, Micrognathia, Bifid uvula, Abnormal oral fren... ORPHA:2753
Hartsfield Syndrome
Gonadotropin deficiency, Lobar holoprosencephaly, Median cleft lip, Cleft palate, Ectrodactyly, D... OMIM:615465
Trigonocephaly With Short Stature And Developmental Delay
Sagittal craniosynostosis, Convex nasal ridge, High palate, Ventricular septal defect, Wide nasal... OMIM:314320
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Dental malocclusion, Abnormal periventricular white matter morphology, Contractures of the large ... ORPHA:329178
Desmosterolosis
Ambiguous genitalia, Abnormality of neuronal migration, Ventriculomegaly, Micrognathia, Increased... ORPHA:35107
Monosomy 18P
Hypothyroidism, Wide nasal bridge, Short stature, Hypodontia, Micrognathia, Short philtrum, Downt... ORPHA:1598
Microphthalmia, Syndromic 9
Truncus arteriosus, Wide nasal bridge, Micrognathia, Pulmonary hypoplasia, Hypoplasia of the uter... OMIM:601186
Achondrogenesis, Type Ia
Pulmonary hypoplasia, Unossified vertebral bodies, Disproportionate short-trunk short stature, Ta... OMIM:200600
Peters Plus Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Abnormal cardiac septum morphology, Anterior hypopit... ORPHA:709
Dyssegmental Dysplasia, Silverman-Handmaker Type
Flexion contracture, Wide nasal bridge, Micrognathia, Pulmonary hypoplasia, Clubbing of fingers, ... ORPHA:1865
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Precocious puberty, Hyperthyroidism, Recurrent fractures, Abnormal testis... ORPHA:457059
Microphthalmia With Brain And Digit Anomalies
High palate, Anophthalmia, Finger syndactyly, Inferior cerebellar vermis hypoplasia, Postaxial fo... ORPHA:139471
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Decrease... ORPHA:90796
8P23.1 Microdeletion Syndrome
Atrioventricular canal defect, Tapered finger, Wide nasal bridge, Abnormal cardiac septum morphol... ORPHA:251071
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Wide nose, Precocious puberty, High palate, Short foot, Small hand, Micrognathia, Clinodactyly, S... ORPHA:254531
Bardet-Biedl Syndrome 19
Patent ductus arteriosus, Ventricular septal defect, Hypogonadism, Hyposmia, External genital hyp... OMIM:615996
Fanconi Anemia
Ventriculomegaly, Abnormal testis morphology, Abnormal carotid artery morphology, Aplasia/Hypopla... ORPHA:84
Lig4 Syndrome
Hypothyroidism, Prominent nose, Failure to thrive, Microcephaly, Cryptorchidism, Micropenis, Amen... OMIM:606593
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Lipoatrophy, Pancreatitis, Hepatomegaly ORPHA:79084
Obesity Due To Prohormone Convertase I Deficiency
Childhood-onset truncal obesity, Increased adipose tissue, Failure to thrive, Cholestasis, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Childhood-onset truncal obesity, Increased adipose tissue, Failure to thrive, Cholestasis, Obesity ORPHA:71526
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tapered finger, Wide nasal bridge, Delayed eruption of teeth, Micrognathia, ... OMIM:619148
Summitt Syndrome
Obesity OMIM:272350
Stankiewicz-Isidor Syndrome
Retrognathia, 2-3 toe syndactyly, Absent thumb, Patent ductus arteriosus, Prominent nose, Truncus... OMIM:617516
Cohen Syndrome
Tapered finger, Micrognathia, Iris coloboma, Tooth agenesis, Gingival overgrowth, Genu valgum, Ve... ORPHA:193
Bardet-Biedl Syndrome 4
Polydactyly, Hypogonadism, External genital hypoplasia, Brachydactyly, Renal cyst, Syndactyly, Cr... OMIM:615982
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Short stature, Increased circulat... ORPHA:171706
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Prader-Willi Syndrome
Precocious puberty, Ventriculomegaly, Adrenal insufficiency, Radial deviation of finger, Primary ... OMIM:176270
Lowry-Maclean Syndrome
Atrioventricular canal defect, Convex nasal ridge, Micrognathia, Cleft palate, Choanal atresia, T... ORPHA:2409
Combined Oxidative Phosphorylation Deficiency 54
Periventricular nodular heterotopia, Microretrognathia, Hypertelorism, Secondary microcephaly, Hy... OMIM:619737
Baraitser-Winter Syndrome 1
Ventriculomegaly, Wide nasal bridge, Lissencephaly, Duplication of phalanx of hallux, Iris colobo... OMIM:243310
Distal Monosomy 15Q
Bifid tongue, Abnormal cardiac septum morphology, Micrognathia, Hip dislocation, Pulmonary hypopl... ORPHA:1596
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Short stature, Hypoplasia of penis, Aplasia/Hypoplasia of the testes, Cryptorchidism, Obesity ORPHA:3055
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
2-3 toe syndactyly, Tapered finger, Coloboma, Wide nasal bridge, Hallux valgus, Ventriculomegaly,... OMIM:618659
Mental Retardation Syndrome, Belgian Type
Wide nose, Mandibular prognathia, Deeply set eye, Coloboma, Cleft ala nasi, Eunuchoid habitus, Di... OMIM:249599
Aarskog-Scott Syndrome
Short 5th finger, Wide nasal bridge, Radial deviation of finger, Curved linear dimple below the l... OMIM:305400
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Clark-Baraitser syndrome
Macroorchidism, Genu valgum, Tapered finger, Prominent median palatal raphe, Exaggerated median t... OMIM:300602
Kleefstra Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Delayed eruption of teeth, Supernumerary nipple, Eve... ORPHA:261494
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... ORPHA:52901
Infantile Systemic Hyalinosis
Camptodactyly of finger, Short palm, Gingival overgrowth, Increased susceptibility to fractures, ... ORPHA:2176
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Decreased fertility, High palate, Hypogonadism, Abnormal testis morphology, Short stature, Mitral... ORPHA:2233
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Ventriculomegaly, Decreas... ORPHA:98754
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Chronic bronchitis, Bronchiectasis, Short stature, Malabsorption, Micrognathia, Macroglossia, Sho... OMIM:242860
Kallmann Syndrome
Anterior hypopituitarism, Tooth agenesis, Primary amenorrhea, Cleft palate, Reduced bone mineral ... ORPHA:478
Hartsfield Syndrome
Non-midline cleft lip, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Lobar holoprosen... ORPHA:2117
Tetralogy Of Fallot
Abnormal nasal morphology, Clinodactyly of the 5th finger, Brachydactyly, Proptosis, Cryptorchidi... ORPHA:3303
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Thick corpus callosum, Hydrocephalus, Macrocephaly, Syndactyly, Megalencephaly,... OMIM:615938
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Hematuria, Membranoproliferative glomerulonephritis, Diabetes mellitus, Polyc... OMIM:608709
Cutis Laxa, Autosomal Recessive, Type Iib
High palate, Long philtrum, Narrow nasal ridge, Deeply set eye, Hydrocephalus, Joint hypermobilit... OMIM:612940
Diastrophic Dysplasia
Camptodactyly of finger, Increased bone mineral density, Micrognathia, Elbow dislocation, Hypopla... ORPHA:628
1Q21.1 Microdeletion Syndrome
Wide nasal bridge, Abnormal cardiac septum morphology, Toe syndactyly, Iris coloboma, Talipes equ... ORPHA:250989
Smith-Magenis Syndrome
Hypothyroidism, Precocious puberty, Ventriculomegaly, Wide nasal bridge, Toe syndactyly, Microgna... ORPHA:819
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Death in infancy, Agyria, Agenesis of corpus callosum, Lissencephaly, Pa... OMIM:300067
Perrault Syndrome 4
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... OMIM:615300
Intellectual Developmental Disorder, Autosomal Recessive 13
Cleft upper lip, Mild microcephaly, Wide nasal bridge, Inferior cerebellar vermis hypoplasia, Sho... OMIM:613192
Angelman Syndrome
Precocious puberty in females, Mandibular prognathia, Cerebral cortical atrophy, Wide mouth, Wide... ORPHA:72
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Cowden Syndrome 6
Hypothyroidism, Hyperthyroidism, Colonic diverticula, High palate, Micrognathia, Thyroiditis, Hyd... OMIM:615109
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
2-3 toe syndactyly, Metatarsus adductus, Everted lower lip vermilion, 4-5 toe syndactyly, Short t... ORPHA:3041
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Micronodular cirrhosis, Hepatomegaly,... OMIM:301045
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
48,Xxxy Syndrome
Coxa valga, Delayed eruption of teeth, Taurodontia, Hip dislocation, Elbow dislocation, Cleft pal... ORPHA:96263
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Large for gestational age, Pancreatic islet-cell hyperplasia OMIM:601820
Radio-Tartaglia Syndrome
Precocious puberty, Tapered finger, Wide nasal bridge, Micrognathia, Prominent nasal tip, Gray ma... OMIM:619312
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Ventriculomegaly, Decreas... ORPHA:177901
Trisomy 5P
Ventriculomegaly, Short stature, Abnormal metacarpal morphology, Hypoplasia of penis, Macrocephal... ORPHA:1742
Aminopterin Syndrome Sine Aminopterin
Arachnodactyly, High palate, Decreased body weight, Joint contracture of the hand, Short stature,... OMIM:600325
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Short 5th finger, Ventriculomegaly, Polymicrogyria, Patent foramen ovale, Hypoplasia of the brain... ORPHA:500159
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Flexion contracture, Tapered finger, Ventriculomegaly, Micrognathia, Camptodactyly, Overlapping t... OMIM:309590
Prader-Willi Syndrome
Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Ventriculomegaly, Hypopla... ORPHA:739
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Ventriculomegaly, Decreas... ORPHA:98793
Yunis-Varon Syndrome
Hypoplasia of the frontal lobes, Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the dist... ORPHA:3472
Satoyoshi Syndrome
Genu varum, Tapered finger, Short stature, Abnormality of the humerus, Abnormality of the ovary, ... ORPHA:3130
Macrosomia Adiposa Congenita
Obesity, Large for gestational age OMIM:248100
Bresek Syndrome
Vesicoureteral reflux, Convex nasal ridge, Decreased testicular size, Aganglionic megacolon, Hydr... ORPHA:85284
Icf Syndrome
Short stature, Malabsorption, Micrognathia, Communicating hydrocephalus, Macrocephaly, Macrogloss... ORPHA:2268
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Hepatomegaly ORPHA:2432
Focal Dermal Hypoplasia
Short phalanx of finger, Short 4th metacarpal, Bifid ureter, Delayed eruption of teeth, Toe synda... OMIM:305600
Ulnar-Mammary Syndrome
Short 5th finger, Elbow flexion contracture, Postaxial hand polydactyly, Stiff elbow, Imperforate... OMIM:181450
Gorlin Syndrome
Palmar pits, Vertebral fusion, Mandibular prognathia, Arachnodactyly, Wide nasal bridge, Hydrocep... ORPHA:377
Joubert Syndrome 37
Wide nose, High palate, Deeply set eye, Wide nasal bridge, Short stature, Decreased testicular si... OMIM:619185
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Failure to thrive, Elevated hepatic transaminase, Decreased liver function OMIM:617093
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Ventriculomegaly, Decreas... ORPHA:177904
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia OMIM:256450
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus, Wide nasal bridge OMIM:209970
Congenital Disorder Of Glycosylation, Type Iig
Hemolytic-uremic syndrome, Wide nasal bridge, Lateral ventricle dilatation, Micrognathia, Camptod... OMIM:611209
Mosaic Variegated Aneuploidy Syndrome 1
Ambiguous genitalia, Ventriculomegaly, Hypodysplasia of the corpus callosum, Micrognathia, Cleft ... OMIM:257300
Microgastria-Limb Reduction Defect Syndrome
Truncus arteriosus, Elbow dislocation, Phocomelia, Ectrodactyly, Absent hand, Multicystic kidney ... ORPHA:2538
Tatton-Brown-Rahman Syndrome
Aortic root aneurysm, Short toe, Patent ductus arteriosus, Mandibular prognathia, Ventriculomegal... ORPHA:404443
Cockayne Syndrome Type 2
Enamel hypoplasia, Flexion contracture, Mandibular prognathia, Delayed eruption of primary teeth,... ORPHA:90322
Cowden Syndrome 1
Hypothyroidism, Hemimegalencephaly, Hyperthyroidism, Colonic diverticula, High palate, Micrognath... OMIM:158350
Cowden Syndrome 5
Hypothyroidism, Hyperthyroidism, Colonic diverticula, High palate, Micrognathia, Thyroiditis, Hyd... OMIM:615108
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Male infertility OMIM:617593
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,... ORPHA:168563
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Deeply set eye, Finger syndactyly, Hypotelorism, Hydrocephalus, Clinoda... ORPHA:251046
Schaaf-Yang Syndrome
Retrognathia, Abnormality of the philtrum, Flexion contracture, Mandibular prognathia, Short foot... OMIM:615547
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Wiedemann-Rautenstrauch Syndrome
Convex nasal ridge, Hypoplasia of the thymus, Flexion contracture, Delayed eruption of teeth, Mic... OMIM:264090
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Short stature, Secondary amenorrhea, Polycystic ovaries, Hypergonadotropic hypogonadism, Insulin-... OMIM:268020
Trichothiodystrophy
Cerebral cortical atrophy, Multiple joint contractures, Hypoplasia of mandible relative to maxill... ORPHA:33364
Developmental And Epileptic Encephalopathy 36
Flexion contracture, Small hand, Hydrocephalus, Macrocephaly, Microretrognathia, Hypertelorism, M... OMIM:300884
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... ORPHA:529970
Holoprosencephaly 1
Diabetes insipidus, Aplasia of the nose, Ethmocephaly, Short stature, Proboscis, Cerebellar hypop... OMIM:236100
Lenz-Majewski Hyperostotic Dwarfism
Cerebral cortical atrophy, Ventriculomegaly, Humeroradial synostosis, Micrognathia, Elbow flexion... OMIM:151050
Apert Syndrome
Ventriculomegaly, Ectopic anus, Delayed eruption of teeth, Humeroradial synostosis, Bifid uvula, ... OMIM:101200
Trisomy 17P
Flexion contracture, Tapered finger, Micrognathia, Smooth philtrum, Cleft palate, Thick nasal ala... ORPHA:261290
Joubert Syndrome 1
Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Clinodactyly, Macrocephaly, Macroglos... OMIM:213300
Congenital Absence Of Upper Arm And Forearm With Hand Present
Congenital malformation of the great arteries, Polydactyly, Abnormal cardiac septum morphology, S... ORPHA:294975
Genitopalatocardiac Syndrome
Non-midline cleft lip, Multicystic kidney dysplasia, Gonadal dysgenesis, male, Wide nasal bridge,... ORPHA:2075
Fraser Syndrome
Ambiguous genitalia, Bifid tongue, Midline nasal groove, Wide nasal bridge, Ectopic anus, Toe syn... ORPHA:2052
Atkin-Flaitz Syndrome
Macroorchidism, Short stature, Macrocephaly, Maxillary lateral incisor microdontia, Obesity, Ever... ORPHA:1193
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenogenital syndrome, Hypospadias, Adrenal hyperplasia OMIM:201910
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ambiguous genitalia, Micrognathia, Lissencephaly, Overlapping toe, Bilateral talipes equinovarus,... OMIM:618142
Primary Ciliary Dyskinesia
Ventriculomegaly, Bronchiectasis, Abnormal inferior vena cava morphology, Double outlet right ven... ORPHA:244
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hypoplasia of the frontal lobes, Flexion contracture, Lateral ventricle dilatation, Micrognathia,... OMIM:210710
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Selective tooth agenesis, Toe syndactyly, Microdontia, Depressed nasal tip, Cleft palate, Choanal... OMIM:129900
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Decreased fertility, Reduced bone mineral density, Recurrent fractures, Short stature, Absence of... ORPHA:2235
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Ventriculomegaly, Wide nasal bridge, Abnormal cerebral vascular morphology, M... ORPHA:2637
Growth Hormone Insensitivity Syndrome
Diabetes insipidus, Hypogonadism, Delayed eruption of teeth, Short stature, Type II diabetes mell... ORPHA:181393
Acromelic Frontonasal Dysostosis
Short tibia, Polydactyly, Ventriculomegaly, Wide nasal bridge, Periventricular nodular heterotopi... OMIM:603671
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Carney Complex
Precocious puberty, Esophageal neoplasm, Neoplasm of the pancreas, Oligospermia, Follicular thyro... ORPHA:1359
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Micrognathia, Distal shortening of limbs, Pulmonary hypoplasia, S... ORPHA:50945
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Hypo... OMIM:620135
Inverted Duplicated Chromosome 15 Syndrome
2-3 toe syndactyly, Precocious puberty, High palate, Ventricular septal defect, Hypogonadism, Dee... ORPHA:3306
Monosomy 18Q
Hypothyroidism, Tapered finger, Secundum atrial septal defect, Biparietal narrowing, Left aortic ... ORPHA:1600
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Wide nasal bridge, Wide mouth, Short stature, Submucous cleft hard palate, Joint hyp... OMIM:618106
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Coffin-Siris Syndrome 12
Hip subluxation, Hypothyroidism, Noncommunicating hydrocephalus, Micrognathia, Prominent nasal ti... OMIM:619325
Williams Syndrome
Precocious puberty, Colonic diverticula, Hallux valgus, Aortic arch aneurysm, Aplasia/Hypoplasia ... ORPHA:904
Intellectual Developmental Disorder, Autosomal Dominant 7
Cerebral cortical atrophy, Deeply set eye, Hallux valgus, Birth length less than 3rd percentile, ... OMIM:614104
Laurence-Moon Syndrome
Finger syndactyly, Short stature, Type II diabetes mellitus, Hypoplasia of penis, Hand polydactyl... ORPHA:2377
Trichothiodystrophy 3, Photosensitive
Natal tooth, Short stature, Bilateral cryptorchidism, Pyloric stenosis, Eclabion, Failure to thri... OMIM:616395
Congenital Sialidosis Type 2
Polydactyly, Respiratory tract infection, Cherry red spot of the macula, Hydrocephalus, Macroceph... ORPHA:93400
Intellectual Developmental Disorder, Autosomal Dominant 53
Genu valgum, Ventricular septal defect, Wide mouth, Hyperintensity of cerebral white matter on MR... OMIM:617798
Schilbach-Rott Syndrome
Prominent nose, Short stature, Micrognathia, Bifid uvula, Submucous cleft hard palate, 3-4 finger... OMIM:164220
Vissers-Bodmer Syndrome
Decreased head circumference, Decreased body weight, Tapered finger, Short stature, Holoprosencep... OMIM:619033
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Catel-Manzke Syndrome
Camptodactyly of finger, Metatarsus valgus, Ventricular septal defect, Short stature, Ventriculom... ORPHA:1388
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Mandibular prognathia, High palate, Tapered finger, Ventriculomegaly, Joint hypermobility, Everte... OMIM:617804
Microphthalmia With Linear Skin Defects Syndrome
Ambiguous genitalia, Mandibular aplasia, Abnormality of the anus, Wide nasal bridge, Abnormal tes... ORPHA:2556
Vici Syndrome
Everted upper lip vermilion, Micrognathia, Median cleft lip, Cleft palate, Postnatal growth retar... OMIM:242840
Acrodysostosis
Wide nasal bridge, Delayed eruption of teeth, Epiphyseal stippling, Short toe, Abnormal morpholog... ORPHA:950
Hepatic Veno-Occlusive Disease
Jaundice, Elevated hepatic transaminase, Hepatomegaly, Ascites, Increased body weight ORPHA:890
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Mandibular prognathia, Tapered finger, Small hand, Depressed nasal ridge, Deeply set eye, Hip dys... OMIM:618672
Acrodysostosis 2 With Or Without Hormone Resistance