banner
Genes Phenotypes Help, News, Blog

Gene: Wdr11 MGI:1920230

Log in to follow

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
abnormal spinal cord morphology Wdr11em1(IMPC)Mbp HET Early adult 0.00
abnormal eye morphology Wdr11em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Wdr11em1(IMPC)Mbp HOM Early adult 0.00
abnormal uterus morphology Wdr11em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Wdr11em1(IMPC)Mbp HET Late adult 0.00
abnormal liver morphology Wdr11em1(IMPC)Mbp HOM Early adult 0.00
absent seminal vesicle Wdr11em1(IMPC)Mbp HOM Late adult 0.00
decreased circulating alanine transaminase level Wdr11em1(IMPC)Mbp HET Late adult 9.49×10-05
decreased locomotor activity Wdr11em1(IMPC)Mbp HOM   Early adult 9.89×10-05
anophthalmia Wdr11em1(IMPC)Mbp HOM Early adult 0.00
male infertility Wdr11em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Wdr11em1(IMPC)Mbp HET Early adult 0.00
enlarged heart Wdr11em1(IMPC)Mbp HET Late adult 0.00
small heart Wdr11em1(IMPC)Mbp HET Late adult 0.00
small heart Wdr11em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Wdr11em1(IMPC)Mbp HET Late adult 0.00
enlarged seminal vesicle Wdr11em1(IMPC)Mbp HOM Late adult 0.00
decreased exploration in new environment Wdr11em1(IMPC)Mbp HET Early adult 6.21×10-05
enlarged kidney Wdr11em1(IMPC)Mbp HET Late adult 0.00
absent seminal vesicle Wdr11em1(IMPC)Mbp HET Late adult 0.00
iris synechia Wdr11em1(IMPC)Mbp HOM Early adult 8.67×10-05
abnormal skin morphology Wdr11em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Wdr11em1(IMPC)Mbp HET Late adult 0.00
enlarged seminal vesicle Wdr11em1(IMPC)Mbp HET Late adult 0.00
improved glucose tolerance Wdr11em1(IMPC)Mbp HET Late adult 4.25×10-05
abnormal coat/ hair morphology Wdr11em1(IMPC)Mbp HET Early adult 9.83×10-05
absent adrenal gland Wdr11em1(IMPC)Mbp HOM Late adult 0.00
hydrometra Wdr11em1(IMPC)Mbp HOM Early adult 0.00
increased red blood cell distribution width Wdr11em1(IMPC)Mbp HOM   Early adult 4.45×10-06
preweaning lethality, incomplete penetrance Wdr11em1(IMPC)Mbp HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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

View images
X-ray

XRay Images Whole Body Lateral Orientation

18 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

30 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
Histopathology

Images

6 Images

View images
Download thumbnail Download
MicroCT E18.5

Embryo reconstruction

2 Images

View images

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, Eunuchoid habitus, Cleft palate, Osteopenia, Depressed nasal bridge, Primary amenorrhe... ORPHA:432
Pituitary Stalk Interruption Syndrome
Failure to thrive, Hypoplasia of penis, Short stature, Abnormality of the hypothalamus-pituitary ... ORPHA:95496
Kallmann Syndrome
Dyspareunia, Cleft palate, Primary amenorrhea, Erectile dysfunction, Decreased fertility, Tooth a... ORPHA:478
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size 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
Hydrocephalus, Macrocephaly, Depressed nasal ridge, Depressed nasal tip, Aplasia/Hypoplasia of th... ORPHA:2162
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Hydrocephalus, 11 pairs of ribs, Polymicrogyria, Ventricular septal defect, Me... OMIM:264480
Microform Holoprosencephaly
Cleft palate, Short philtrum, Ambiguous genitalia, Short nose, Solitary median maxillary central ... ORPHA:280200
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Drumstick terminal phalanges, Hydrocephalus, Cleft palate, Ventricular septal defect, Umbilical h... OMIM:612938
16P13.11 Microdeletion Syndrome
Wide mouth, Cleft palate, Depressed nasal bridge, Ventricular septal defect, Short nose, Abnormal... ORPHA:261236
Trisomy 18
Cleft palate, Anencephaly, Abnormality of the upper limb, Ventricular septal defect, Short nose, ... ORPHA:3380
Sim1-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Osteopenia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, S... ORPHA:398079
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Magel2-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Osteopenia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, I... ORPHA:398069
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Ambiguous genitalia, Thyroid hyp... ORPHA:2166
Acrocallosal Syndrome
High palate, Abnormal cardiac septum morphology, Wide mouth, Macrocephaly, Triangular mouth, Clef... OMIM:200990
Kleefstra Syndrome Due To 9Q34 Microdeletion
Abnormal cardiac septum morphology, Cerebral cortical hemiatrophy, Short nose, Abnormal testis mo... ORPHA:96147
Solitary Median Maxillary Central Incisor
Cleft upper lip, Abnormal nasopharynx morphology, Hypotelorism, Decreased response to growth horm... OMIM:147250
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Overlapping toe, Macrocephaly, Atrial septal defect, Hyperteloris... OMIM:300963
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Cleft palate, Depressed nasal bridge, Ventricular septal defect, Intrauterine grow... OMIM:220210
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Cataract-Intellectual Disability-Hypogonadism Syndrome
High palate, Hypotelorism, Cerebral cortical atrophy, Tooth malposition, Malar flattening, Short ... ORPHA:1387
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Holoprosencephaly 5
High palate, Hydrocephalus, Hypotelorism, Alobar holoprosencephaly, Holoprosencephaly, Syntelence... OMIM:609637
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Cleft palate, Broad nasal tip, Depressed nasal bridge, Short philtrum, Ventricular s... OMIM:612530
Triploidy
Abnormal cardiac septum morphology, Hydrocephalus, Wide mouth, Macrocephaly, Cleft palate, Ambigu... ORPHA:3376
49,Xxxxy Syndrome
Depressed nasal ridge, Cleft palate, Depressed nasal bridge, Down-sloping shoulders, Delayed erup... ORPHA:96264
Pallister-Hall Syndrome
Cleft palate, Hypothalamic hamartoma, Decreased circulating cortisol level, Depressed nasal bridg... OMIM:146510
Trisomy 1Q
Hydrocephalus, Macrocephaly, Cleft palate, Depressed nasal bridge, Ventricular septal defect, Amb... ORPHA:261344
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Recombinant Chromosome 8 Syndrome
Depressed nasal bridge, Abnormality of the dentition, Ventricular septal defect, Thick lower lip ... OMIM:179613
Tonne-Kalscheuer Syndrome
Pulmonary hypoplasia, Abnormal heart morphology, Micrognathia, Decreased testicular size, Hyperte... OMIM:300978
Distal Monosomy 10P
Ectopic anus, Joint stiffness, Anal atresia, Clinodactyly of the 5th finger, Convex nasal ridge, ... ORPHA:1580
Kleefstra Syndrome 1
Single transverse palmar crease, Mandibular prognathia, U-Shaped upper lip vermilion, Talipes equ... OMIM:610253
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Functioning Gonadotropic Adenoma
Hydrocephalus, Impotence, Ovarian cyst, Osteopenia, Central diabetes insipidus, Pituitary gonadot... ORPHA:91348
Mosaic Trisomy 9
High palate, Bulbous nose, Cleft palate, Micromelia, Finger clinodactyly, Ventricular septal defe... ORPHA:99776
Ethanolaminosis
Cardiomegaly OMIM:227150
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Macrocephaly, Polymicrogyria, Ventricular septal defect, Single transverse palmar cr... OMIM:214100
Trisomy 13
Cleft palate, Abnormality of the dentition, Abnormality of the ureter, Ventricular septal defect,... ORPHA:3378
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Increased hepatic glycogen content, Truncal obesity ORPHA:293964
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Distal Monosomy 13Q
Aplasia/Hypoplasia affecting the eye, Abnormal cardiac septum morphology, Anal atresia, Hypertelo... ORPHA:1590
Ring Chromosome 21 Syndrome
Amenorrhea, Infertility, Fused thoracic vertebrae, Holoprosencephaly, Small hand, Short stature, ... ORPHA:1445
15Q24 Microdeletion Syndrome
Depressed nasal bridge, Abnormality of the dentition, Microphallus, Wide nasal base, Abnormal hea... ORPHA:94065
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Depressed nasal bridge, Talipes equinovarus, Retrognathia, Long philtrum, Radial dev... OMIM:141750
Distal Monosomy 7Q36
Wide mouth, Bulbous nose, Clinodactyly of the 5th finger, Hypoplasia of penis, Cleft palate, Holo... ORPHA:1636
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Cleft upper lip, Hypotelorism, Dysplastic corpus callosum, Joint contracture of the hand, Depress... OMIM:601016
Orofaciodigital Syndrome I
High palate, Hydrocephalus, Cleft palate, Hypothalamic hamartoma, Ovarian cyst, Lobulated tongue,... OMIM:311200
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Depressed nasal bridge, Tapered finger, Ventricular septal defect, Short nose, Umbilical hernia, ... OMIM:301040
Xp22.13P22.2 Duplication Syndrome
Flared nostrils, High palate, 2-3 toe syndactyly, Short stature, Small hand, Broad nasal tip, Rec... ORPHA:284180
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Narrow mouth, Aplasia/Hypoplasia involving the nose, Hypoplasia of penis, Holoprosencephaly, Apla... ORPHA:990
Temple Syndrome
High palate, Hydrocephalus, Cleft palate, Depressed nasal bridge, Short philtrum, Intrauterine gr... OMIM:616222
Fontaine Progeroid Syndrome
Absent nipple, Hydrocephalus, Periventricular heterotopia, Craniosynostosis, Depressed nasal brid... OMIM:612289
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Bulbous nose, Deeply set eye, Short stature, Small hand, Thin vermilion border... ORPHA:261483
Pde4D Haploinsufficiency Syndrome
Broad phalanx, Elevated circulating parathyroid hormone level, Depressed nasal bridge, Cone-shape... ORPHA:439822
Rudiger Syndrome
Bicornuate uterus, Flexion contracture, Micropenis, Ovarian cyst, Depressed nasal bridge, Single ... OMIM:268650
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Cleft palate, Micropenis, Small for gestat... OMIM:300148
Cornelia De Lange Syndrome 5
High palate, Cleft palate, Broad nasal tip, Depressed nasal bridge, Hypogonadism, Clinodactyly of... OMIM:300882
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Tooth malposition, Micropenis, Short stature, Abnormality of dental morpholo... ORPHA:85274
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hydrocephalus, Bulbous nose, Elbow ankylosis, Abnormal external genitalia, Craniosynostosis, Decr... ORPHA:95699
Developmental Delay With Or Without Dysmorphic Facies And Autism
Abnormal cardiac septum morphology, Bulbous nose, Wide mouth, Cleft palate, Depressed nasal bridg... OMIM:618454
Jacobsen Syndrome
Labial hypoplasia, Hydrocephalus, Macrocephaly, Depressed nasal bridge, Clitoral hypoplasia, Vent... OMIM:147791
Pallister-Hall Syndrome
Macrocephaly, Central adrenal insufficiency, Depressed nasal ridge, Atrioventricular canal defect... ORPHA:672
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Macrocephaly, Depressed nasal bridge, Cutaneous syndactyly, Ventricular septal defect, Pulmonary ... OMIM:618316
Microphthalmia, Syndromic 12
Bicornuate uterus, Retrognathia, Broad nasal tip, Micrognathia, Anophthalmia, Hypoplastic left at... OMIM:615524
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Pulmonic stenosis, Enlarged kidney, Situs inversus total... OMIM:615382
Prader-Willi Syndrome Due To Translocation
High palate, Wide mouth, External genital hypoplasia, Cleft palate, Broad nasal tip, Clinodactyly... ORPHA:177907
Charge Syndrome
Abnormal cardiac septum morphology, Labial hypoplasia, Cleft palate, Depressed nasal bridge, Trac... ORPHA:138
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Multiple joint contractures, Periventricular heterotopia, Craniosynostosis, Polymicrogyria, Hypop... ORPHA:468631
1Q41Q42 Microdeletion Syndrome
Deeply set eye, Talipes equinovarus, Hypotelorism, Cleft palate, Holoprosencephaly, Hypergonadotr... ORPHA:250999
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Cleft palate, Depressed nasal tip, Micromelia, Enlarged kidney, Ambiguous genitali... OMIM:612651
Smith-Lemli-Opitz Syndrome
Dental crowding, Hydrocephalus, Periventricular heterotopia, Cleft palate, Broad alveolar ridges,... OMIM:270400
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Short toe, Hyperinsulinemia, Type II diabetes mellitus, Short stature, Hypergonadotropic hypogona... ORPHA:3085
Alkuraya-Kucinskas Syndrome
High palate, Hydrocephalus, Macrocephaly, Depressed nasal bridge, Cutaneous syndactyly, Short nos... OMIM:617822
Hydrolethalus
Hydrocephalus, Deeply set eye, Cleft palate, Absent septum pellucidum, Abnormality of the sense o... ORPHA:2189
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma OMIM:616428
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Cleft palate, Anencephaly, Micromelia, Aplasia/Hypoplasia of the cerebellum, Ventr... ORPHA:1908
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Craniosynostosis, Depressed nasal bridge, Radioulnar synostosis, Short nose, Umbil... ORPHA:171839
Smith-Lemli-Opitz Syndrome
Wide mouth, Cleft palate, Atrioventricular canal defect, Advanced eruption of teeth, Aplasia/Hypo... ORPHA:818
Pallister-Hall-Like Syndrome
Hydrocephalus, Macrocephaly, Cleft palate, Micropenis, Hypothalamic hamartoma, Depressed nasal br... OMIM:241800
1Q21.1 Microduplication Syndrome
Failure to thrive, Hydrocephalus, Macrocephaly, Talipes equinovarus, Hypertelorism, Hypospadias, ... ORPHA:250994
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Gray matter heterotopia, Cleft palate, Cleft ala nasi, Congenital hip disl... OMIM:164180
3C Syndrome
Abnormal mitral valve morphology, Hydrocephalus, Macrocephaly, Cleft palate, Atrioventricular can... ORPHA:7
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
10Q22.3Q23.3 Microduplication Syndrome
Deeply set eye, Microretrognathia, Hypotelorism, Hypospadias, Abnormality of the dentition, Micro... ORPHA:276422
Xk Aprosencephaly Syndrome
Anal atresia, Narrow mouth, Hypotelorism, Atrial septal defect, Abnormal external genitalia, Abno... ORPHA:3469
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Holoprosencephaly 3
Hypotelorism, Malar flattening, Holoprosencephaly, Cleft palate, Depressed nasal bridge, Microcep... OMIM:142945
Familial Hyperprolactinemia
Amenorrhea, Infertility, Osteopenia, Hemorrhagic ovarian cyst, Oligomenorrhea, Menorrhagia, Osteo... ORPHA:397685
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Hypotelorism, Hypoplasia of penis,... ORPHA:3082
Microcephaly 26, Primary, Autosomal Dominant
Failure to thrive, Gingival overgrowth, Dysplastic corpus callosum, Hypertelorism, Short stature,... OMIM:619179
Semilobar Holoprosencephaly
High palate, Hydrocephalus, Macrocephaly, Depressed nasal ridge, Cleft palate, Abnormal hypothala... ORPHA:220386
Alobar Holoprosencephaly
High palate, Hydrocephalus, Macrocephaly, Depressed nasal ridge, Cleft palate, Abnormal hypothala... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
High palate, Hydrocephalus, Macrocephaly, Depressed nasal ridge, Cleft palate, Abnormal hypothala... ORPHA:93926
Lobar Holoprosencephaly
High palate, Hydrocephalus, Macrocephaly, Depressed nasal ridge, Cleft palate, Abnormal hypothala... ORPHA:93924
Degcags Syndrome
High palate, Wide mouth, Hiatus hernia, Abnormal renal medulla morphology, Craniosynostosis, Oste... OMIM:619488
Periventricular Nodular Heterotopia 7
2-3 toe syndactyly, Gray matter heterotopia, Flexion contracture, Cleft palate, Micrognathia, Per... OMIM:617201
Raine Syndrome
High palate, Wide mouth, Hydrocephalus, Cleft palate, Cerebral calcification, Depressed nasal bri... OMIM:259775
Short Stature-Micrognathia Syndrome
High palate, Failure to thrive, Intrauterine growth retardation, Decreased body weight, 2-3 toe s... OMIM:617164
Meckel Syndrome, Type 1
Abnormal cardiac septum morphology, Hydrocephalus, Ambiguous genitalia, female, Wide mouth, Exter... OMIM:249000
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Disproportionate short-limb short stature, Hypertelorism, Hypoplasia of peni... ORPHA:2772
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Wide mouth, Bulbous nose, Depressed nasal bridge, Polymicrogyria, Hypoplasia of the corpus callos... OMIM:300354
Thanatophoric Dysplasia Type 2
Hydrocephalus, Limitation of joint mobility, Atrial septal defect, Macrocephaly, Holoprosencephal... ORPHA:93274
Halothane Hepatitis
Obesity, Hepatitis, Viral hepatitis, Jaundice OMIM:234350
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Bulbous nose, Aortic valve stenosis, Everted lower lip vermilion, Depressed nasal bridge, Mitral ... ORPHA:324410
Meningioma
Hydrocephalus, Impotence, Decreased circulating cortisol level, Neoplasm of the posterior pituita... ORPHA:2495
Ring Chromosome 22 Syndrome
Growth delay, Bulbous nose, 2-3 toe syndactyly, Absent septum pellucidum, Microcephaly, Large han... ORPHA:1446
Proboscis Lateralis
High palate, Macrocephaly, External genital hypoplasia, Optic disc coloboma, Ventricular septal d... ORPHA:141099
Xp22.3 Microdeletion Syndrome
Ectopic anus, Aplasia/Hypoplasia affecting the eye, Short stature, Hypogonadotropic hypogonadism,... ORPHA:1643
Chromosome 3Q13.31 Deletion Syndrome
High palate, Alobar holoprosencephaly, Hypertelorism, High, narrow palate, Micropenis, Short phil... OMIM:615433
Bardet-Biedl Syndrome 5
External genital hypoplasia, Micropenis, Brachydactyly, Syndactyly, Polydactyly, Hypogonadism, Ob... OMIM:615983
Holoprosencephaly, Recurrent Infections, And Monocytosis
Failure to thrive, Short toe, Holoprosencephaly, Micropenis, Microcephaly, Brachydactyly, Tapered... OMIM:610680
Non-Distal Trisomy 13Q
High palate, Aplasia/Hypoplasia affecting the eye, Hypotelorism, Everted lower lip vermilion, Ara... ORPHA:1702
Biemond Syndrome Type 2
Hydrocephalus, Microphthalmia, Short stature, Preaxial polydactyly, Hypogonadotropic hypogonadism... ORPHA:141333
Ritscher-Schinzel Syndrome 4
High palate, Wide mouth, Short philtrum, Tapered finger, Narrow palm, Proptosis, Deeply set eye, ... OMIM:619435
Temple Syndrome
Hydrocephalus, Type II diabetes mellitus, Precocious puberty, Decreased response to growth hormon... ORPHA:254516
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias, Tracheoesophageal fistula, 11... ORPHA:77298
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin resistance, Enlarged kidney, Insulin-r... ORPHA:90301
Seckel Syndrome 7
Intrauterine growth retardation, Hypoplasia of the uterus, Abnormal carpal morphology, Hypotelori... OMIM:614851
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Macrocephaly, Anencephaly, Lobulated tongue, Ventricular septal defect, Ambiguous ... OMIM:269860
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Macrocephaly, Craniosynostosis, Hypoplasia of the corpus callosum, Ventricular septal defect, Roc... OMIM:301056
Developmental And Epileptic Encephalopathy 80
High palate, Wide mouth, Tapered finger, Polymicrogyria, Hypoplasia of the corpus callosum, Abnor... OMIM:618580
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Microcephaly, Tapered finger, Short foot, Obesity, Cryptorchidism OMIM:309585
Wilson-Turner Syndrome
Deeply set eye, Short stature, Small hand, Hypogonadotropic hypogonadism, Broad nasal tip, Microg... ORPHA:3459
Walker-Warburg Syndrome
Hydrocephalus, Macrocephaly, Cleft palate, Polymicrogyria, Microphthalmia, Abnormality of neurona... ORPHA:899
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
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad nasal tip, Long nose, Simplified gyral pattern, Intrauterine growth retardation, Disproport... OMIM:616541
Holoprosencephaly 9
Hydrocephalus, Cleft palate, Depressed nasal bridge, Short philtrum, Hypoplasia of the maxilla, S... OMIM:610829
Bangstad Syndrome
Hyperinsulinemia, Convex nasal ridge, Deeply set eye, Increased circulating cortisol level, Short... ORPHA:1227
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Narrow mouth, Hypotelorism, Small for gestational age, Short stature, Micrognathia, Oligodontia, ... OMIM:616817
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Eunuchoid habitus, Cleft palate, Osteopenia, Depressed nasal bridge, Primary amenorrhe... ORPHA:432
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Aplasia of the phalanges of the 3rd toe, Dila... ORPHA:2229
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Acromelic Frontonasal Dysostosis
Cleft palate, Broad nasal tip, Hypoplasia of the corpus callosum, Encephalocele, Cleft upper lip,... OMIM:603671
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Slender finger, Short philtrum, Down-sloping shoulders, Hypoplasia of the corpus callosum, Short ... ORPHA:391408
48,Xxyy Syndrome
Tall stature, Cleft palate, Hypergonadotropic hypogonadism, Delayed eruption of teeth, Radioulnar... ORPHA:10
Koolen-De Vries Syndrome
High palate, Bulbous nose, Slender finger, Prominent fingertip pads, Cleft palate, Narrow palm, H... OMIM:610443
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
High palate, Bulbous nose, Macrocephaly, Tall stature, Hypoplasia of the corpus callosum, Ventric... OMIM:616975
Luscan-Lumish Syndrome
Advanced ossification of carpal bones, Macrocephaly, Malar flattening, Short stature, Long nose, ... OMIM:616831
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypotelorism, Microphthalmia, Holoprosencephaly, Hypoplasia of the radius, Aplasia of the nose, M... ORPHA:3186
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cleft palate, Holoprosencephaly, Radial club hand, Microcephaly, Abnormal morphology of the radiu... ORPHA:2165
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Micropenis, Male pseudohermaphroditism, Hypospadias, Absent scrotum, Adrenal hyper... OMIM:201810
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Macrocephaly, Craniosynostosis, 1-3 toe syndactyly, Broad hallux, Umbilical hernia... OMIM:175700
Borjeson-Forssman-Lehmann Syndrome
Short toe, Deeply set eye, Widely spaced toes, Shortening of all distal phalanges of the fingers,... OMIM:301900
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, High, narrow palate, Short stature, Hypergonadotropic hypogonadism, Abnormality of... ORPHA:2183
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Bardet-Biedl Syndrome 7
Narrow mouth, 2-3 toe syndactyly, Deeply set eye, Malar flattening, Postaxial polydactyly, Depres... OMIM:615984
Mental retardation, x-linked, syndromic, Turner type
Macrocephaly, Holoprosencephaly, Limited elbow extension, Tapered finger, Macroorchidism OMIM:300706
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Ovarian cyst, Abnormality of the humerus, Thin bony cortex, Abno... ORPHA:249
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorioretinal coloboma OMIM:611638
Hadziselimovic Syndrome
High palate, Failure to thrive, Anal atresia, Hypotelorism, Atrial septal defect, U-Shaped upper ... OMIM:612946
Trisomy 18P
Narrow mouth, Abnormality of finger, Hypotelorism, High, narrow palate, Short stature, Thin vermi... ORPHA:1715
Genitourinary And/Or Brain Malformation Syndrome
Macrocephaly, Streak ovary, Uterus didelphys, Polymicrogyria, Short nose, Clitoral hypertrophy, C... OMIM:618820
Holoprosencephaly 14
Hydrocephalus, Periventricular heterotopia, Macrocephaly, Cleft palate, Ventricular septal defect... OMIM:619895
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Mccune-Albright Syndrome
Abnormality of femur morphology, Abnormal endocrine physiology, Ovarian cyst, Increased circulati... ORPHA:562
Hypodontia-Dysplasia Of Nails Syndrome
Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet... ORPHA:2228
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Truncal obesity OMIM:618160
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... OMIM:619902
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Congenital Generalized Lipodystrophy
Amenorrhea, Failure to thrive, Precocious puberty in females, Bone cyst, Hyperinsulinemia, Macrog... ORPHA:528
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Multiple joint contractures, Deeply set eye, Cerebral cortical atrophy, Holoprosencephaly, Adduct... ORPHA:2570
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Wide mouth, Macrocephaly, Cleft palate, Congenital hip dislocation, Tapered finger, ... OMIM:300209
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Down Syndrome
Depressed nasal ridge, Depressed nasal bridge, Abnormality of the dentition, Microdontia, Short n... ORPHA:870
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome OMIM:103900
Carpenter Syndrome 1
High palate, External genital hypoplasia, Aplasia/Hypoplasia of the middle phalanges of the toes,... OMIM:201000
Combined Pituitary Hormone Deficiencies, Genetic Forms
Depressed nasal ridge, Osteopenia, Median cleft lip and palate, Anterior pituitary agenesis, Abno... ORPHA:95494
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cleft upper lip, Hypotelorism, Cleft palate, Finger joint hypermobility, Micropenis, Hypogonadotr... OMIM:244200
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, High palate, 2-3 toe syndactyly, Atrial septal defect, Hypertelori... ORPHA:3304
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Charge Syndrome
Labial hypoplasia, External genital hypoplasia, Cleft palate, Tracheoesophageal fistula, Down-slo... OMIM:214800
Distal Monosomy 10Q
High palate, Prominent fingertip pads, Craniosynostosis, Cleft palate, Tapered finger, Single tra... ORPHA:96148
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity, Joint contracture of the hand, Camptodactyly OMIM:264010
Emanuel Syndrome
High palate, Multiple joint contractures, Hydrocephalus, Cleft palate, Congenital hip dislocation... ORPHA:96170
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand, Mild postnatal growth retardat... OMIM:101800
Harrod Syndrome
High palate, Failure to thrive, Dental malocclusion, Hypotelorism, Narrow mouth, Cerebral cortica... ORPHA:2115
Cutis Laxa, Autosomal Recessive, Type Iiia
Failure to thrive, Narrow mouth, Hypotelorism, Talipes equinovarus, Hypertelorism, Severe short s... OMIM:219150
Donohue Syndrome
Wide mouth, Gingival overgrowth, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, ... OMIM:246200
Kennerknecht syndrome
Abdominal obesity, High palate, Malrotation of colon, Hypoplasia of the uterus, Convex nasal ridg... OMIM:600908
Filippi Syndrome
Cutaneous syndactyly, Short philtrum, Finger clinodactyly, Microdontia, Ventricular septal defect... OMIM:272440
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Cleft palate, Short stature, Abnormality of the ureter, Brachydactyly, Gonadal dysgenesis, Bilate... ORPHA:1770
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Bulbous nose, Depressed nasal bridge, Short philtrum, Birth length less than 3rd percentile, Sing... OMIM:618622
Pituitary Stalk Interruption Syndrome
Failure to thrive, Hypoplasia of penis, Short stature, Abnormality of the hypothalamus-pituitary ... ORPHA:95496
Camptodactyly Syndrome, Guadalajara, Type Ii
Labial hypoplasia, Hypotelorism, Talipes equinovarus, Short stature, Osteopenia, Micrognathia, Ca... OMIM:211920
Chromosome 13Q14 Deletion Syndrome
High palate, Bulbous nose, Hypoplasia of the corpus callosum, Ventricular septal defect, Single t... OMIM:613884
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Osteopenia, Primary amenorrh... OMIM:614837
Multiple Pterygium-Malignant Hyperthermia Syndrome
Cleft palate, Advanced eruption of teeth, Tapered finger, Ulnar deviation of finger, Proptosis, A... ORPHA:2215
Crossed Polysyndactyly
Hypoplasia of penis, Depressed nasal bridge, Postaxial hand polydactyly, Abnormality of the philt... ORPHA:2935
Meckel Syndrome 14
Microretrognathia, Holoprosencephaly, Postaxial polydactyly, Single ventricle, Decreased calvaria... OMIM:619879
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Hypertelorism, Unilambdoid synostosis, Micrognathia, Long philtrum, Ulnar deviatio... OMIM:618577
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Adrenogenital syndrome OMIM:202110
Trigonocephaly-Short Stature-Developmental Delay Syndrome
High palate, Fifth finger distal phalanx clinodactyly, Hypotelorism, Small for gestational age, S... ORPHA:3369
Mosaic Variegated Aneuploidy Syndrome
Depressed nasal ridge, Cleft palate, Stomach cancer, Aplasia/Hypoplasia of the cerebellum, Abnorm... ORPHA:1052
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Li-Ghorbani-Weisz-Hubshman Syndrome
Overlapping toe, Periventricular heterotopia, Clinodactyly of the 5th finger, Atrial septal defec... OMIM:618974
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
14Q22Q23 Microdeletion Syndrome
Proptosis, Small scrotum, Clinodactyly of the 5th finger, Micrognathia, Anophthalmia, Adrenal hyp... ORPHA:264200
19P13.12 Microdeletion Syndrome
Cleft palate, Craniosynostosis, Aplasia/Hypoplasia of the cerebellar vermis, Hypoplasia of the co... ORPHA:254346
Mosaic Variegated Aneuploidy Syndrome 2
Bulbous nose, Craniosynostosis, Depressed nasal bridge, Ventricular septal defect, Single transve... OMIM:614114
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
High palate, Wide mouth, Slender finger, Depressed nasal bridge, Tapered finger, Genu valgum, Ten... OMIM:309580
Congenital Disorder Of Glycosylation, Type Iia
Wide mouth, Macrocephaly, Osteopenia, Abnormality of the dentition, Macrodontia, Ventricular sept... OMIM:212066
Marshall-Smith Syndrome
Failure to thrive, Gingival overgrowth, Reduced bone mineral density, Craniosynostosis, Retrognat... ORPHA:561
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 3rd toe, Radiculomegaly, Broad nasal tip... OMIM:300166
Cerebrooculonasal Syndrome
High palate, Hydrocephalus, Macrocephaly, Cleft palate, Craniosynostosis, Hypoplasia of the corpu... OMIM:605627
45,X/46,Xy Mixed Gonadal Dysgenesis
High palate, Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Horseshoe kidney, Ab... ORPHA:1772
Holoprosencephaly 2
Proptosis, Median cleft lip and palate, Absent nasal septal cartilage, Solitary median maxillary ... OMIM:157170
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Macrocephaly, Hypertelorism, Prominent median palatal raph... OMIM:300431
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Acrootoocular Syndrome
Decreased palmar creases, Cutaneous syndactyly, Delayed eruption of teeth, Sandal gap, Wide nasal... ORPHA:2980
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Cleft palate, Radioulnar synostosis, Single transverse palmar crease, Short nose, Enamel agenesis... OMIM:614701
Acalvaria
Hydrocephalus, Cleft palate, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Abnormal lu... ORPHA:945
Maternal Hyperthermia-Induced Birth Defects
Aplasia/Hypoplasia affecting the eye, Joint stiffness, Clinodactyly of the 5th finger, Hypoplasia... ORPHA:2216
Townes-Brocks Syndrome 1
Hydrocephalus, Tracheoesophageal fistula, Bifid uterus, Ventricular septal defect, Umbilical hern... OMIM:107480
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:289548
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Cleft palate, Depressed nasal bridge, Short philtrum, Pyloric stenosis, Intrauterine... ORPHA:96184
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Renal tubular dysfunction, Hydrocephalus, Cholelithiasis, Atrial s... OMIM:614886
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Hypoplasia of the corpus callosum, Ventricular septal defect, Microphthal... OMIM:206900
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatic steatosis, Hepatomegaly, Hepatic failure OMIM:617872
Bardet-Biedl Syndrome 10
Polydactyly, Renal cyst, Renal insufficiency, Hypogonadism, Obesity OMIM:615987
Chung-Jansen Syndrome
High palate, Hypertelorism, Thin vermilion border, Micrognathia, Short philtrum, Long philtrum, T... OMIM:617991
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Choreoathetosis, Anophthalmia, Microphthalmia OMIM:221950
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Bulbous nose, Cleft palate, Depressed nasal bridge, Abnormality of the dentition, Tapered finger,... OMIM:300968
Mehmo Syndrome
Growth delay, Talipes equinovarus, Hypoplasia of penis, External genital hypoplasia, Micropenis, ... ORPHA:85282
Prader-Willi-Like Syndrome
Perisylvian polymicrogyria, External genital hypoplasia, Central adrenal insufficiency, Osteopeni... ORPHA:398073
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Osteopenia, Abnormal hand morphology, Ventricular septal defect, Osteolysis,... ORPHA:371428
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Ele... OMIM:617156
Fg Syndrome Type 1
High palate, Wide mouth, Hydrocephalus, Malrotation of colon, Macrocephaly, Craniosynostosis, Lim... ORPHA:93932
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Delayed proximal femoral epiphyseal ossification, De... ORPHA:226307
Culler-Jones Syndrome
Cleft upper lip, Hypotelorism, Cleft palate, Micropenis, Postaxial polydactyly, Short stature, Hy... OMIM:615849
Chromosome Xq27.3-Q28 Duplication Syndrome
Increased circulating gonadotropin level, Abdominal obesity, Bulbous nose, Deeply set eye, Decrea... OMIM:300869
Ring Chromosome Y Syndrome
Ambiguous genitalia, female, Female infertility, Streak ovary, Abnormality of the male genitalia,... ORPHA:261529
Preeclampsia
Chronic kidney disease, Small for gestational age, Increased body mass index, Type I diabetes mel... ORPHA:275555
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Thick corpus callosum, Depressed nasal ridge, Short fourth metatarsal, Hypoplasia of the corpus c... ORPHA:464288
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Deeply set eye, Hypotelorism, Macrocephaly, Micropenis, Long nose, Short philtrum, Cerebellar hyp... OMIM:300486
Intellectual Developmental Disorder, Autosomal Recessive 5
Thick upper lip vermilion, Hypotelorism, Small for gestational age, Short stature, Short philtrum... OMIM:611091
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
High palate, Hydrocephalus, Bulbous nose, Macrocephaly, Short philtrum, Congenital hip dislocatio... OMIM:619512
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Generalized ... OMIM:612526
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Absent thumb, Hypoplasia of the radius, Polymicrogyria, Hypoplasia of ... OMIM:156810
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Osteopenia, Ventricular septal defect, Short nose, Pulmonary hypoplasia, Intrauteri... OMIM:616897
Ataxia-Telangiectasia
Failure to thrive, Type II diabetes mellitus, Short stature, Delayed puberty, Diabetes mellitus, ... ORPHA:100
Diabetic Embryopathy
Aplasia/Hypoplasia affecting the eye, Hydrocephalus, Tall stature, Micropenis, Cleft palate, Micr... ORPHA:1926
Narcolepsy Type 1
Obesity ORPHA:2073
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Cryptorchidism, Congenital adrenal hypoplasia, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Coffin-Siris Syndrome 9
High palate, Long nose, Depressed nasal bridge, Short philtrum, Delayed eruption of teeth, Short ... OMIM:615866
Urban-Rogers-Meyer Syndrome
Recurrent fractures, Clinodactyly of the 5th finger, Hypoplasia of penis, Short stature, Microgna... ORPHA:3409
Coffin-Siris Syndrome 1
High palate, Wide mouth, Short sternum, Prominent fingertip pads, Cleft palate, Broad nasal tip, ... OMIM:135900
X-Linked Intellectual Disability, Snyder Type
High palate, Testicular atrophy, Bulbous nose, Disproportionate tall stature, Cleft palate, Abnor... ORPHA:3063
Williams-Beuren Region Duplication Syndrome
High palate, Hydrocephalus, Deeply set eye, Macrocephaly, Decreased response to growth hormone st... OMIM:609757
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Abnormal palate morphology, Hydrocephalus, Hypertelorism, Short stature, Pulmonic stenosis, Thin ... ORPHA:2701
Central Precocious Puberty
Hydrocephalus, Hypothalamic hamartoma, Premature thelarche, Isosexual precocious puberty, Overgro... ORPHA:759
Microphthalmia With Limb Anomalies
High palate, Hydrocephalus, Cleft palate, Depressed nasal bridge, Macrodontia, True anophthalmia,... ORPHA:1106
46,Xx Gonadal Dysgenesis
Streak ovary, Reduced bone mineral density, Osteopenia, Arachnodactyly, Primary amenorrhea, Short... ORPHA:243
Microphthalmia, Syndromic 5
Cleft palate, Micropenis, Short stature, Optic nerve hypoplasia, Anophthalmia, Coloboma, Ectopic ... OMIM:610125
Proteus-Like Syndrome
Hydrocephalus, Macrocephaly, Open bite, Abnormality of the parathyroid gland, Communicating hydro... ORPHA:2969
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity, Increased adipose tissue ORPHA:71529
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Absent thumb, Hypergonadotropic hypogonadism, Tracheoesophageal fistula, Hypoplasi... OMIM:227646
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Ab... ORPHA:280356
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Postnatal growth retardation, Relative macrocephaly, Small hand, Micrognathia... ORPHA:254525
Neu-Laxova Syndrome
External genital hypoplasia, Depressed nasal ridge, Cleft palate, Cerebral calcification, Osteope... ORPHA:2671
Holoprosencephaly 13, X-Linked
Median cleft palate, Cleft palate, Ventricular septal defect, Solitary median maxillary central i... OMIM:301043
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Failure to thrive, Dental malocclusion, Hypotelorism, Supernumerary tooth, Decreased... OMIM:264475
Ring Chromosome 7 Syndrome
Hydrocele testis, Median cleft palate, Slender finger, Cleft palate, Short philtrum, Single trans... ORPHA:1449
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
High palate, Dislocated radial head, Narrow mouth, Deeply set eye, Talipes equinovarus, Hypotelor... OMIM:602471
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Failure to thrive, Dental malocclusion, Hypotelorism, External genital hypoplasia, O... ORPHA:329178
Orofaciodigital Syndrome Xiv
Periventricular heterotopia, Cleft palate, Optic disc coloboma, Polymicrogyria, Ventricular septa... OMIM:615948
Fraser Syndrome 1
Hydrocephalus, Cleft palate, Depressed nasal bridge, Cleft ala nasi, Clitoral hypertrophy, Abnorm... OMIM:219000
Trigonocephaly With Short Stature And Developmental Delay
High palate, Clinodactyly of the 5th finger, Convex nasal ridge, Hypotelorism, Small for gestatio... OMIM:314320
Cranioectodermal Dysplasia
Short distal phalanx of finger, Abnormal dental enamel morphology, Clinodactyly of the 5th finger... ORPHA:1515
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormality of finger, Hypotelorism, Large iliac wing, Malar flattening, Severe short stature, Co... ORPHA:2511
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
Mental Retardation, Buenos Aires Type
High palate, Failure to thrive, Hydrocephalus, Clinodactyly of the 5th finger, Atrial septal defe... OMIM:249630
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly OMIM:619175
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisocytosis, Hepatos... OMIM:616860
Desmosterolosis
Hydrocephalus, Anomalous pulmonary venous return, Macrocephaly, Cleft palate, Depressed nasal bri... ORPHA:35107
Monosomy 18P
Tooth malposition, Cleft palate, Holoprosencephaly, Short stature, Micrognathia, Short philtrum, ... ORPHA:1598
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Ventricular septal defect, Horseshoe kidney, Pulmonary hypoplasia, Intra... OMIM:601186
Orofaciodigital Syndrome Type 4
Abnormality of the tongue, Absent testis, Depressed nasal ridge, Cleft palate, Cerebral cortical ... ORPHA:2753
Baraitser-Winter Syndrome 1
Wide mouth, Short nose, Microphthalmia, Pachygyria, Cleft upper lip, Retrognathia, Long philtrum,... OMIM:243310
Holoprosencephaly 7
Hydrocephalus, Macrocephaly, Depressed nasal tip, Short nose, Median cleft lip and palate, Absent... OMIM:610828
Microphthalmia With Brain And Digit Anomalies
High palate, Abnormality of the hypothalamus-pituitary axis, Microcephaly, Anophthalmia, Inferior... ORPHA:139471
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... ORPHA:90796
Bardet-Biedl Syndrome 16
External genital hypoplasia, Bronchiolitis, Renal cyst, Renal insufficiency, Hypogonadism, Obesit... OMIM:615993
Peters Plus Syndrome
Abnormal cardiac septum morphology, Hydrocephalus, Wide mouth, Cleft palate, Depressed nasal brid... ORPHA:709
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Cholestasis, Childhood-onset truncal obesity, Increased adipose tissue, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Cholestasis, Childhood-onset truncal obesity, Increased adipose tissue, Obesity ORPHA:71526
8P23.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Atrioventricular canal defect, Tapered finger, S... ORPHA:251071
Fanconi Anemia
High palate, Abnormal cardiac septum morphology, Hydrocephalus, Abnormality of femur morphology, ... ORPHA:84
Mental Retardation Syndrome, Belgian Type
Deeply set eye, Eunuchoid habitus, Hypergonadotropic hypogonadism, Cleft ala nasi, Coloboma, Wide... OMIM:249599
Summitt Syndrome
Obesity OMIM:272350
Meckel Syndrome
Hydrocephalus, Aplasia/Hypoplasia of the tongue, Depressed nasal ridge, Cleft palate, Anencephaly... ORPHA:564
Prader-Willi Syndrome
Hyperinsulinemia, External genital hypoplasia, Osteopenia, Primary amenorrhea, Clitoral hypoplasi... OMIM:176270
Stankiewicz-Isidor Syndrome
2-3 toe syndactyly, Hypertelorism, Absent thumb, Micropenis, Retrognathia, Hypospadias, Micrognat... OMIM:617516
Pierpont Syndrome
Prominent fingertip pads, Primary microcephaly, Microphthalmia, Deeply set eye, Deep palmar creas... ORPHA:487825
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Recurrent fractures, Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyp... ORPHA:457059
Lowry-Maclean Syndrome
Hydrocephalus, Cleft palate, Craniosynostosis, Atrioventricular canal defect, Osteopenia, Single ... ORPHA:2409
Achondrogenesis, Type Ia
Hypoplastic sacrum, Hypoplasia of the radius, Depressed nasal bridge, Micromelia, Disproportionat... OMIM:200600
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Distally placed thumb, Cutaneous syndactyly, Short philtrum, Anencephaly, Delayed er... OMIM:619148
Congenital Disorder Of Glycosylation, Type Iie
Failure to thrive, Narrow mouth, Cerebral atrophy, Adducted thumb, Retrognathia, Micrognathia, Sh... OMIM:608779
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Bardet-Biedl Syndrome 4
External genital hypoplasia, Abnormality of the dentition, Brachydactyly, Syndactyly, Polydactyly... OMIM:615982
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
High palate, Abnormal morphology of ulna, Short stature, Mitral valve prolapse, Abnormal metacarp... ORPHA:2233
Intellectual Developmental Disorder, Autosomal Recessive 13
Cleft upper lip, Hypotelorism, Slender finger, Short philtrum, Mild microcephaly, Truncal obesity... OMIM:613192
Kleefstra Syndrome
Delayed eruption of teeth, Advanced eruption of teeth, Ventricular septal defect, Pyloric stenosi... ORPHA:261494
Mend Syndrome
High palate, Overlapping toe, Hydrocephalus, 2-3 toe syndactyly, Aortic valve stenosis, Microretr... OMIM:300960
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Thin vermilion border, Abnormal nasal morphology, Brachydactyly, ... ORPHA:3303
Lig4 Syndrome
Amenorrhea, Failure to thrive, Hypotelorism, Micropenis, Microcephaly, Hypothyroidism, Prominent ... OMIM:606593
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
High palate, Precocious puberty, Postnatal growth retardation, Maturity-onset diabetes of the you... ORPHA:254531
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Diabetes me... OMIM:608709
Cutis Laxa, Autosomal Recessive, Type Iib
High palate, Failure to thrive, Hydrocephalus, Bulbous nose, Deeply set eye, Hypertelorism, Malar... OMIM:612940
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Growth delay, Abnormal circulating insulin concentration, Short stature, Decreased circulating fr... ORPHA:171706
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Wide mouth, Cone-shaped epiphysis, Tapered finger, Hypoplasia of the corpus callosum, Broad hallu... OMIM:618659
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Miscarriage, Cleft palate, Micromelia, Proptosis, Pulmonary hypoplasia, Encephaloc... ORPHA:1865
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Short stature, Aplasia/Hypoplasia of the testes, Obesity, Cryptorchidism ORPHA:3055
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
High palate, Bulbous nose, External genital hypoplasia, Broad nasal tip, Short philtrum, Hypogona... ORPHA:3041
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Transposition of the great arte... OMIM:314390
Infantile Systemic Hyalinosis
Macrocephaly, Steatorrhea, Osteopenia, Micromelia, Polycystic ovaries, Aplasia/Hypoplasia of the ... ORPHA:2176
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Perisylvian polymicrogyria, External genital hypoplasia, Central adrenal insufficiency, Osteopeni... ORPHA:98754
Gorlin Syndrome
Hydrocephalus, Hypertelorism, Abnormality of the sense of smell, Hypogonadotropic hypogonadism, A... ORPHA:377
Trisomy 5P
Macrocephaly, Hypoplasia of penis, Short stature, Abnormal metacarpal morphology, Ventriculomegal... ORPHA:1742
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Macrocephaly, Prominent median palatal raphe, Tall stature... OMIM:300602
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum, Macrodontia, Tape... ORPHA:193
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Sinusitis, Malabsorption, Malar flattening, Macroglossia, Short stature, Depre... OMIM:242860
Ulnar-Mammary Syndrome
Aplasia of the 5th metacarpal, Hypoplasia of the radius, Ventricular septal defect, Hypoplasia of... OMIM:181450
Aarskog-Scott Syndrome
Testicular atrophy, Cleft palate, Single transverse palmar crease, Short nose, Hypoplasia of the ... OMIM:305400
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Perisylvian polymicrogyria, External genital hypoplasia, Central adrenal insufficiency, Osteopeni... ORPHA:177901
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
1Q21.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Hydrocephalus, Bulbous nose, Microphthalmia, Ank... ORPHA:250989
Smith-Magenis Syndrome
Cleft palate, Depressed nasal bridge, Abnormality of the ureter, Short philtrum, Short nose, Tent... ORPHA:819
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Microretrognathia, Hypergonadotropic hypogonadism, Periventricular no... OMIM:619737
Kallmann Syndrome
Dyspareunia, Cleft palate, Primary amenorrhea, Erectile dysfunction, Decreased fertility, Tooth a... ORPHA:478
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Perisylvian polymicrogyria, External genital hypoplasia, Central adrenal insufficiency, Osteopeni... ORPHA:98793
48,Xxxy Syndrome
Depressed nasal ridge, Tall stature, Cleft palate, Down-sloping shoulders, Delayed eruption of te... ORPHA:96263
Hartsfield Syndrome
Intrauterine growth retardation, Hypertelorism, Microphthalmia, Cleft palate, Craniosynostosis, D... ORPHA:2117
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia OMIM:256450
Diastrophic Dysplasia
Macrocephaly, Cleft palate, Cerebral calcification, Depressed nasal bridge, Micromelia, Symphalan... ORPHA:628
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Hepatomegaly ORPHA:2432
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Micropenis, Agyria, Lissencephaly, Death in infancy, Postnatal growth re... OMIM:300067
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Macrocephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Ventricular septal defect, Umbil... ORPHA:500159
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Perisylvian polymicrogyria, External genital hypoplasia, Central adrenal insufficiency, Osteopeni... ORPHA:177904
Joubert Syndrome 37
High palate, Deeply set eye, Hypertelorism, Microphthalmia, Micropenis, Postaxial polydactyly, Sh... OMIM:619185
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Satoyoshi Syndrome
Amenorrhea, Abnormality of femur morphology, Nephrogenic diabetes insipidus, Hypoplasia of the ut... ORPHA:3130
Familial Partial Lipodystrophy, Köbberling Type
Pancreatitis, Hepatic steatosis, Lipoatrophy, Hepatomegaly ORPHA:79084
Angelman Syndrome
Wide mouth, Precocious puberty in females, Cerebral dysmyelination, Cerebral cortical atrophy, De... ORPHA:72
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Cowden Syndrome 6
Hydrocele testis, High palate, Narrow mouth, Progressive macrocephaly, Hyperthyroidism, Ovarian c... OMIM:615109
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Disproportionate tall statu... OMIM:615300
Prader-Willi Syndrome
Perisylvian polymicrogyria, Stroke, External genital hypoplasia, Central adrenal insufficiency, O... ORPHA:739
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Broad nasal tip, Congenital hip dislocation, Micromelia, Finger cl... ORPHA:508488
Aminopterin Syndrome Sine Aminopterin
High palate, Decreased body weight, Hypertelorism, Joint contracture of the hand, Cleft palate, S... OMIM:600325
Inverted Duplicated Chromosome 15 Syndrome
High palate, Precocious puberty, Talipes equinovarus, Clinodactyly of the 5th finger, 2-3 toe syn... ORPHA:3306
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cystic renal dysplasia, Enlarged kidney, ... OMIM:615415
Focal Dermal Hypoplasia
Hydrocephalus, Labial hypoplasia, Hiatus hernia, Cleft palate, Broad nasal tip, Cleft ala nasi, C... OMIM:305600
6P22 Microdeletion Syndrome
Hydrocephalus, Deeply set eye, Hypotelorism, Patent ductus arteriosus, Clinodactyly, Hydronephros... ORPHA:251046
Bresek Syndrome
Intrauterine growth retardation, Hydrocephalus, Convex nasal ridge, Cleft palate, Optic nerve hyp... ORPHA:85284
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
High palate, Wide mouth, Bulbous nose, Macrocephaly, Craniosynostosis, Broad nasal tip, Depressed... OMIM:309590
Hartsfield Syndrome
Cleft upper lip, Ectrodactyly, Hypotelorism, Hypertelorism, Cleft palate, Craniosynostosis, Micro... OMIM:615465
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus, Wide nasal bridge OMIM:209970
Schaaf-Yang Syndrome
Flexion contracture, Micropenis, Small hand, Retrognathia, Short stature, Open mouth, Rocker bott... OMIM:615547
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
High palate, Hypotelorism, Depressed nasal bridge, Microcephaly, Long philtrum, Type I diabetes m... OMIM:618500
Radio-Tartaglia Syndrome
High palate, Wide mouth, Bulbous nose, Depressed nasal bridge, Short philtrum, Tapered finger, Ve... OMIM:619312
Yunis-Varon Syndrome
Hydrocephalus, Slender long bones with narrow diaphyses, Absent thumb, Short philtrum, Tapered fi... ORPHA:3472
Trichothiodystrophy
Multiple joint contractures, Craniosynostosis, Osteopenia, Carious teeth, Ventricular septal defe... ORPHA:33364
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Tracheoesophageal fistula, Abnormality of the humerus, Horseshoe kidney, Microphth... ORPHA:2538
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Macrocephaly, Depressed nasal bridge, Delayed eruption of teeth, Long penis, Propt... OMIM:264090
Distal Monosomy 15Q
Abnormal cardiac septum morphology, Double outlet right ventricle with doubly committed ventricul... ORPHA:1596
Genitopalatocardiac Syndrome
Abnormal cardiac septum morphology, Gonadal dysgenesis, male, Hydrocephalus, Hypertelorism, Cleft... ORPHA:2075
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Cockayne Syndrome Type 2
Intrauterine growth retardation, Widely spaced primary teeth, Anodontia, Hypoplasia of the primar... ORPHA:90322
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... ORPHA:52901
Icf Syndrome
Malabsorption, Macrocephaly, Macroglossia, Short stature, Depressed nasal bridge, Micrognathia, C... ORPHA:2268
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Williams Syndrome
Cholelithiasis, Wide mouth, Stroke, Abnormal carotid artery morphology, Radioulnar synostosis, Ge... ORPHA:904
Cowden Syndrome 1
Hydrocele testis, High palate, Narrow mouth, Progressive macrocephaly, Hyperthyroidism, Ovarian c... OMIM:158350
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... OMIM:301045
Catel-Manzke Syndrome
Joint stiffness, Failure to thrive, Clinodactyly of the 5th finger, Atrial septal defect, Radial ... ORPHA:1388
Cowden Syndrome 5
Hydrocele testis, High palate, Narrow mouth, Progressive macrocephaly, Hyperthyroidism, Ovarian c... OMIM:615108
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Macrocephaly, Microretrognathia, Cerebral atrophy, Flexion contracture, Small hand... OMIM:300884
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Depressed nasal bridge, Hypoplasia of the corpus callosum, Ventricular septal defect... OMIM:618142
Carney Complex
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... ORPHA:1359
Holoprosencephaly 1
Hypotelorism, Alobar holoprosencephaly, Micropenis, Short stature, Single ventricle, Ethmocephaly... OMIM:236100
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Trisomy 17P
High palate, Wide mouth, Hydrocephalus, Cleft palate, Tapered finger, Thick nasal alae, Intrauter... ORPHA:261290
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Fraser Syndrome
High palate, Depressed nasal bridge, Cleft ala nasi, Ambiguous genitalia, Pulmonary hypoplasia, U... ORPHA:2052
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Vissers-Bodmer Syndrome
Decreased body weight, Tall stature, Short stature, Holoprosencephaly, Tapered finger, Intrauteri... OMIM:619033
Laurence-Moon Syndrome
Type II diabetes mellitus, Hypoplasia of penis, Short stature, Brachydactyly, Bilateral single tr... ORPHA:2377
Congenital Sialidosis Type 2
Hydrocephalus, Gingival overgrowth, Macrocephaly, Cherry red spot of the macula, Polydactyly, Hyp... ORPHA:93400
Monosomy 18Q
High palate, Wide mouth, Hydrocephalus, Bulbous nose, Depressed nasal bridge, Short philtrum, Tap... ORPHA:1600
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome OMIM:201910
Primary Ciliary Dyskinesia
Hydrocephalus, Female infertility, Anomalous pulmonary venous return, Chronic sinusitis, Peribron... ORPHA:244
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Recurrent fractures, Hypoplasia of the ovary, Reduced circulating prolactin concentration, Reduce... ORPHA:2235
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Depressed nasal ridge, Polymicrogyria, Proptosis, Shawl scrotum, Abnormality of neuronal migratio... ORPHA:2211
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Cleft palate, ... ORPHA:294975
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Apert Syndrome
Hydrocephalus, Cleft palate, Craniosynostosis, Depressed nasal bridge, Cutaneous syndactyly, Shal... OMIM:101200
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Stroke, Micromelia, Microdontia, Hypoplasia of the corpus callosum, Abnormal epiphysis morphology... ORPHA:2637
Intellectual Developmental Disorder, Autosomal Dominant 53
Thick corpus callosum, Wide mouth, Duodenal atresia, Hypotelorism, Macrocephaly, Micropenis, Shor... OMIM:617798
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Short stature, Everted lower l... ORPHA:181393
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebral atrophy, Short stature, Hypergonadotropic hypogonadism, Broad palm, Secondary amenorrhea... OMIM:268020
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Cleft palate, Broad nasal tip, Depressed nasal tip, Microdontia, Carious teeth, Hypoplasia of the... OMIM:129900
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... ORPHA:730
Joubert Syndrome 1
Hypoplasia of the brainstem, Macrocephaly, Macroglossia, Microcephaly, Nephropathy, Optic disc co... OMIM:213300
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Macrocephaly, Short stature, Everted lower lip vermilion, ... ORPHA:1193
Harrod Syndrome
High palate, Failure to thrive, Dental malocclusion, Hypotelorism, Narrow mouth, External genital... OMIM:601095
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Short philtrum, Agenesis of corpus callosum, Ventricular septal defect, Ambiguous g... ORPHA:93267
Acrodysostosis
Depressed nasal ridge, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped epiphysis, M... ORPHA:950
Schilbach-Rott Syndrome
2-3 toe cutaneous syndactyly, Narrow mouth, Hypotelorism, Short stature, 3-4 finger cutaneous syn... OMIM:164220
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Cavum septum pellucidum, Depressed nasal bridge, Syndactyly, Polydactyly, Polymicr... OMIM:602501
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid valve prolapse, Abnormal cardiac septum morphology, Hydrocephalus, Ambiguous genitalia,... ORPHA:2556
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Wide mouth, Dental crowding, Short stature, Broad nasal tip, Microcephaly, Single tr... OMIM:618106
Trigonocephaly 1
Hypotelorism, Craniosynostosis, Microcephaly, Long penis, Meckel diverticulum OMIM:190440
Coffin-Siris Syndrome 12
High palate, Bulbous nose, Macrocephaly, Slender finger, Depressed nasal bridge, Cutaneous syndac... OMIM:619325
Opitz Gbbb Syndrome
High palate, Cleft palate, Craniosynostosis, Aplasia/Hypoplasia of the cerebellar vermis, Tracheo... ORPHA:2745
Tatton-Brown-Rahman Syndrome
Short toe, Macrocephaly, Atrial septal defect, Widely spaced toes, Hypertelorism, Proportionate t... ORPHA:404443
Peters-Plus Syndrome
Hydrocephalus, Macrocephaly, Cleft palat