Gene Summary

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 uterus morphology Wdr11em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Wdr11em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Wdr11em1(IMPC)Mbp HOM Early adult 0.00
enlarged seminal vesicle Wdr11em1(IMPC)Mbp HOM Late adult 0.00
small heart Wdr11em1(IMPC)Mbp HET Late adult 0.00
small heart Wdr11em1(IMPC)Mbp HOM Early adult 0.00
hydrometra Wdr11em1(IMPC)Mbp HOM Early adult 0.00
anophthalmia Wdr11em1(IMPC)Mbp HOM Early adult 0.00
absent seminal vesicle Wdr11em1(IMPC)Mbp HET Late adult 0.00
abnormal kidney morphology Wdr11em1(IMPC)Mbp HET Late adult 0.00
abnormal heart morphology Wdr11em1(IMPC)Mbp HET Late adult 0.00
enlarged heart Wdr11em1(IMPC)Mbp HET Late adult 0.00
increased red blood cell distribution width Wdr11em1(IMPC)Mbp HOM Early adult 1.08×10-05
absent seminal vesicle Wdr11em1(IMPC)Mbp HOM Late adult 0.00
decreased exploration in new environment Wdr11em1(IMPC)Mbp HET Early adult 8.43×10-05
abnormal skin morphology Wdr11em1(IMPC)Mbp HET Early adult 0.00
abnormal skin morphology Wdr11em1(IMPC)Mbp HOM Early adult 0.00
improved glucose tolerance Wdr11em1(IMPC)Mbp HET Late adult 3.93×10-05
absent adrenal gland Wdr11em1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Wdr11em1(IMPC)Mbp HET Late adult 0.00
abnormal spinal cord morphology Wdr11em1(IMPC)Mbp HET Early adult 0.00
enlarged kidney Wdr11em1(IMPC)Mbp HET Late adult 0.00
male infertility Wdr11em1(IMPC)Mbp HOM Early adult 0.00
enlarged seminal vesicle Wdr11em1(IMPC)Mbp HET Late adult 0.00
abnormal tail length Wdr11em1(IMPC)Mbp HET Early adult 8.73×10-05
abnormal liver morphology Wdr11em1(IMPC)Mbp HOM Early adult 0.00

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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 Lateral Orientation

34 Images

X-ray

XRay Images Whole Body Dorso Ventral

78 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Histopathology

Images

3 Images

Histopathology

Images

6 Images

MicroCT E18.5

Embryo reconstruction

2 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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Holoprosencephaly
Microphthalmia, Solitary median maxillary central incisor, Hypoplasia of penis, Anosmia, Tooth ag... ORPHA:2162
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder, Filum terminale lipoma, Tethered cord OMIM:618351
Pseudotrisomy 13 Syndrome
Microphthalmia, Microcephaly, Cyclopia, Tricuspid atresia, Encephalocele, Hydrocephalus, Polymicr... OMIM:264480
Microform Holoprosencephaly
Solitary median maxillary central incisor, Hypoplasia of penis, Microcephaly, Intrauterine growth... ORPHA:280200
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Retrognathia, Bifid uvula, Umbilical hernia, Intrauterine growth retardation, Alveolar ridge over... OMIM:612938
Trisomy 18
Bilateral single transverse palmar creases, Microphthalmia, Anencephaly, Abnormal hip bone morpho... ORPHA:3380
16P13.11 Microdeletion Syndrome
Microcephaly, Wide mouth, Ventriculomegaly, Cyclopia, Anteverted nares, Exaggerated cupid's bow, ... ORPHA:261236
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadism, Hypothalamic luteinizing hormone-releasing hormone deficienc... ORPHA:398079
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Hypoplasia of penis, Thyroid hypoplasia, Microcephaly, Intestinal malrotation, Hy... ORPHA:2166
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Increased body weight, Hypogonadism, Hypothalamic luteinizing hormone-rele... ORPHA:398069
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia OMIM:613571
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Everted lower lip vermilion, Aortic valve stenosis, Microcephaly, Ventriculo... ORPHA:96147
Acrocallosal Syndrome
Everted upper lip vermilion, Pulmonary valve defects, Abnormal oral frenulum morphology, Bifid di... OMIM:200990
Ethanolaminosis
Cardiomegaly OMIM:227150
Solitary Median Maxillary Central Incisor
Cyclopia, Decreased response to growth hormone stimulation test, Hypotelorism, Microphthalmia, An... OMIM:147250
Pallister-Hall Syndrome
Microphthalmia, Ectopic kidney, Hypothalamic hamartoma, Oligodactyly, Shortening of all distal ph... OMIM:146510
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormality of the hand, Hypotelorism, Short philtrum, Tooth malposition, High palate, Furrowed t... ORPHA:1387
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Triploidy
Hypoplasia of penis, Decreased skull ossification, Intestinal malrotation, Wide mouth, Intrauteri... ORPHA:3376
Tonne-Kalscheuer Syndrome
Microcephaly, Broad thumb, Abnormal heart morphology, Hypospadias, Short stature, Malar flattenin... OMIM:300978
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Ritscher-Schinzel Syndrome 2
Prominent fingertip pads, Relative macrocephaly, Intestinal malrotation, Syndactyly, Short distal... OMIM:300963
Ritscher-Schinzel Syndrome 1
Pulmonic stenosis, Aortic valve stenosis, Syndactyly, Intrauterine growth retardation, Decreased ... OMIM:220210
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity, Increased hepatic glycogen content ORPHA:293964
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Sandal gap, Microcephaly, Ventriculomegaly, Short philtrum, Anteverted nares, Sho... OMIM:612530
Recombinant Chromosome 8 Syndrome
Pulmonic stenosis, Ventriculomegaly, Anteverted nares, Abnormality of the dentition, Camptodactyl... OMIM:179613
Kleefstra Syndrome 1
Tracheobronchomalacia, Everted lower lip vermilion, Microcephaly, Conotruncal defect, Hypospadias... OMIM:610253
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Distal Deletion 10P
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Hypoplasia of penis, ... ORPHA:1580
49,Xxxxy Syndrome
Hypoplasia of penis, Hypogonadism, Abnormal epiphysis morphology, Small scrotum, Joint hypermobil... ORPHA:96264
Microphthalmia, Syndromic 12
Retrognathia, Microphthalmia, Anophthalmia, Hypoplastic left atrium, Ventricular septal defect, B... OMIM:615524
Trisomy 1Q
Arachnodactyly, Small scrotum, Ventriculomegaly, Hydrocephalus, Cryptorchidism, Cleft palate, Pat... ORPHA:261344
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Chromosome 6Q11-Q14 Deletion Syndrome
Short nose, Long philtrum, Hypotelorism, Single transverse palmar crease, High palate, Bilateral ... OMIM:613544
Mosaic Trisomy 9
Rocker bottom foot, Microphthalmia, Hypoplasia of penis, Microcephaly, Intestinal malrotation, Mu... ORPHA:99776
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenom... OMIM:614480
15Q24 Microdeletion Syndrome
Wide nasal base, Proximal placement of thumb, Myelomeningocele, Microcephaly, Abnormal heart morp... ORPHA:94065
Peroxisome Biogenesis Disorder 1A (Zellweger)
Rocker bottom foot, Clitoral hypertrophy, Subependymal cysts, Renal cortical microcysts, Hypospad... OMIM:214100
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Trisomy 13
Bilateral single transverse palmar creases, Microphthalmia, Multiple renal cysts, Intrauterine gr... ORPHA:3378
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Sandal gap, Tibial bowing, Syndactyly, Small scrotum, Ventriculomegaly, Aplasia/... OMIM:612651
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Xp22.13P22.2 Duplication Syndrome
2-3 toe syndactyly, Flared nostrils, Recurrent upper respiratory tract infections, Mandibular pro... ORPHA:284180
Ring Chromosome 21 Syndrome
Azoospermia, Diabetes insipidus, Infertility, Narrow palm, Short stature, Microcephaly, Abnormal ... ORPHA:1445
Obesity And Hypopigmentation
Obesity, Hepatic steatosis, Overgrowth OMIM:620195
Distal Monosomy 7Q36
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Hypoplasia of penis, ... ORPHA:1636
Orofaciodigital Syndrome I
Radial deviation of finger, Hypothalamic hamartoma, Myelomeningocele, Microcephaly, Abnormal hear... OMIM:311200
Fontaine Progeroid Syndrome
Retrognathia, Microphthalmia, Proptosis, Everted lower lip vermilion, Microdontia, Death in infan... OMIM:612289
Mehmo Syndrome
Delayed puberty, Hypoplasia of the corpus callosum, Decreased response to growth hormone stimulat... OMIM:300148
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Radial deviation of finger, Microcephaly, Umbilical hernia, Clinodactyly, Coxa valga, Perimembran... OMIM:301040
Cornelia De Lange Syndrome 5
Retrognathia, Proximal placement of thumb, Microcephaly, Hypogonadism, Long philtrum, Ventriculom... OMIM:300882
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Cyclopia, Hypoplasia of penis, Narrow mouth, Mandibular aplasia, Holopros... ORPHA:990
Rudiger Syndrome
Single transverse palmar crease, High axial triradius, Bicornuate uterus, Death in infancy, Ovari... OMIM:268650
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Rocker bottom foot, Abnormal female external genitalia morphology, Abnormal ovar... ORPHA:95699
Distal Deletion 13Q
Abnormality of the hand, Iris coloboma, Anencephaly, Encephalocele, Abnormal metacarpal morpholog... ORPHA:1590
Prader-Willi Syndrome Due To Translocation
Retrognathia, Proptosis, Everted lower lip vermilion, Microcephaly, Abnormal heart morphology, Bi... ORPHA:177907
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrop... OMIM:615382
Xq27.3Q28 Duplication Syndrome
Thin vermilion border, Bulbous nose, Decreased testicular size, Short stature, Failure to thrive,... ORPHA:261483
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Broad metatarsal, Intrauterine growth retardation, Joint hypermobility, Long ph... ORPHA:439822
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Tooth malposition, Short stature, Abnormal dental morphology, Obesity, Hypog... ORPHA:85274
Holoprosencephaly 5
Central diabetes insipidus, Semilobar holoprosencephaly, Orofacial cleft, Hypotelorism, Alobar ho... OMIM:609637
Alkuraya-Kucinskas Syndrome
Small scrotum, Adducted thumb, Overlapping toe, Ventriculomegaly, Clinodactyly, Hydrocephalus, An... OMIM:617822
Global Developmental Delay With Or Without Impaired Intellectual Development
Hypotelorism, Hypospadias, Oligodontia, Pulmonary sequestration, Short stature, Lateral ventricle... OMIM:618330
Temple Syndrome
Relative macrocephaly, Bifid uvula, Intrauterine growth retardation, Joint hypermobility, Clinoda... OMIM:616222
Jacobsen Syndrome
Microphthalmia, Microcephaly, Intrauterine growth retardation, Hypospadias, Labial hypoplasia, Hy... OMIM:147791
Pallister-Hall Syndrome
Microphthalmia, Ectopic kidney, Mesoaxial polydactyly, Hypothalamic hamartoma, Thyroid hypoplasia... ORPHA:672
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Broad alveolar ridges, Dental crowding, Bifid scrotum, Death in infa... OMIM:270400
1Q41Q42 Microdeletion Syndrome
Hypotelorism, Underdeveloped nasal alae, Hypergonadotropic hypogonadism, Short stature, Growth de... ORPHA:250999
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Retrognathia, Optic nerve hypoplasia, Proptosis, Abnormal periventricular white matter morphology... ORPHA:468631
Smith-Lemli-Opitz Syndrome
Clitoral hypertrophy, Proximal placement of thumb, Hypoplasia of penis, Proptosis, Tooth agenesis... ORPHA:818
1Q21.1 Microduplication Syndrome
Macrocephaly, Hypospadias, Hydrocephalus, Cryptorchidism, Arthrogryposis multiplex congenita, Fai... ORPHA:250994
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Proptosis, Microcephaly, Mesomelia, Intrauterine growth retardation, Aplasia/Hypopla... ORPHA:1908
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size... ORPHA:3085
Charge Syndrome
Delayed puberty, Microphthalmia, Bifid scrotum, Anosmia, Tracheoesophageal fistula, Microcephaly,... ORPHA:138
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Cleft ala nasi, Anophthalmia, Dandy-Walker mal... OMIM:164180
Short Stature-Micrognathia Syndrome
Retrognathia, Microcephaly, Broad femoral neck, Small scrotum, Joint hypermobility, Intrauterine ... OMIM:617164
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Long philtrum, Craniosynostosis, Hypospadias, Hydrocephalus, Anteverted nares, ... ORPHA:171839
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Intestinal malrotation, Long philtrum, Overlapping toe, Long toe, Hypospadias, Short philtrum, An... OMIM:618316
Hydrolethalus
Retrognathia, Microphthalmia, Gingival cleft, Anencephaly, Abnormal fallopian tube morphology, An... ORPHA:2189
Chromosome 3Q13.31 Deletion Syndrome
Proximal placement of thumb, Short philtrum, Alobar holoprosencephaly, High palate, Decreased tes... OMIM:615433
Xk Aprosencephaly Syndrome
Abnormal nostril morphology, Microphthalmia, Hypotelorism, Abnormal external genitalia, Narrow mo... ORPHA:3469
Developmental Delay With Or Without Dysmorphic Facies And Autism
Microcephaly, Wide mouth, Umbilical hernia, Small scrotum, Ventriculomegaly, Narrow nose, 2-3 toe... OMIM:618454
Semilobar Holoprosencephaly
Solitary median maxillary central incisor, Abnormality of the endocrine system, Microcephaly, Abn... ORPHA:220386
Alobar Holoprosencephaly
Solitary median maxillary central incisor, Abnormality of the endocrine system, Microcephaly, Abn... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Solitary median maxillary central incisor, Abnormality of the endocrine system, Microcephaly, Abn... ORPHA:93926
Lobar Holoprosencephaly
Solitary median maxillary central incisor, Abnormality of the endocrine system, Microcephaly, Abn... ORPHA:93924
Microphthalmia With Limb Anomalies
Retrognathia, Microphthalmia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocati... OMIM:206920
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hypothalamic hamartoma, Short ribs, Death in infancy, Microcephaly, Hip ... OMIM:241800
10Q22.3Q23.3 Microduplication Syndrome
Hypotelorism, Hypospadias, Abnormality of the philtrum, Abnormality of the dentition, Abnormal ri... ORPHA:276422
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Abnormal palate morphology, Hypotelorism, Clinodactyly of the 5th ... ORPHA:3082
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Short nose, Hypoplasia of the corpus callosum, Patent foramen ovale, ... OMIM:619179
Familial Hyperprolactinemia
Osteopenia, Hemorrhagic ovarian cyst, Infertility, Osteoporosis, Female hypogonadism, Oligomenorr... ORPHA:397685
Degcags Syndrome
Retrognathia, Microphthalmia, Proptosis, Pulmonic stenosis, Microcephaly, Wide mouth, Syndactyly,... OMIM:619488
Raine Syndrome
Subperiosteal bone formation, Cerebral calcification, Proptosis, Microdontia, Death in infancy, M... OMIM:259775
Ring Chromosome 22 Syndrome
Wide nasal base, Azoospermia, 2-3 toe syndactyly, Pleural effusion, Protruding tongue, Growth del... ORPHA:1446
3C Syndrome
Abnormal hip bone morphology, Hypoplasia of penis, Death in infancy, Pulmonic stenosis, Abnormal ... ORPHA:7
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, ... ORPHA:90301
Maternal Hyperthermia-Induced Birth Defects
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Hypoplasia of penis, ... ORPHA:2216
Meckel Syndrome, Type 1
Ambiguous genitalia, male, Occipital encephalocele, Radial deviation of finger, Microphthalmia, A... OMIM:249000
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Sandal gap, Relative macrocephaly, Wide mouth, Hypogonadism, Joint hypermobility... OMIM:300354
Short-Rib Thoracic Dysplasia 12
Anencephaly, Short long bone, Short ribs, Intestinal malrotation, Intrauterine growth retardation... OMIM:269860
Thanatophoric Dysplasia Type 2
Abnormal metaphysis morphology, Macrocephaly, Encephalocele, Hydrocephalus, Proptosis, Aplasia/Hy... ORPHA:93274
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Rocker bottom foot, Retrognathia, Optic nerve hypoplasia, Pulmonic stenosis, Microcephaly, Intrau... OMIM:301056
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Ectopic anus, Aplasia/Hypoplasia affecting the eye, Short stature, Polycyst... ORPHA:1643
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Mandibular prognathia, Abnormal atrioventricular valve morphology, Eve... ORPHA:324410
Wilson-Turner Syndrome
Malar prominence, Short foot, Short stature, Micrognathia, Thin upper lip vermilion, Broad nasal ... ORPHA:3459
Seckel Syndrome 7
Abnormal carpal morphology, Hypotelorism, Clinodactyly of the 5th finger, Madelung deformity, Sho... OMIM:614851
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Meningioma
Urinary incontinence, Neoplasm of the tongue, Proptosis, Impotence, Decreased circulating cortiso... ORPHA:2495
Bardet-Biedl Syndrome 5
Polydactyly, External genital hypoplasia, Obesity, Syndactyly, Hypogonadism, Brachydactyly, Micro... OMIM:615983
Proboscis Lateralis
Microphthalmia, Optic nerve hypoplasia, Proptosis, Ureteral agenesis, Long philtrum, Ventriculome... ORPHA:141099
Ritscher-Schinzel Syndrome 4
Proptosis, Limited knee extension, Wide mouth, Mild fetal ventriculomegaly, Joint hypermobility, ... OMIM:619435
Temple Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Clinodactyly... ORPHA:254516
Holoprosencephaly 9
Microphthalmia, Thin corpus callosum, Solitary median maxillary central incisor, Optic nerve hypo... OMIM:610829
Non-Distal Duplication 13Q
Short nose, Thin vermilion border, Hypotelorism, Postaxial hand polydactyly, High palate, Everted... ORPHA:1702
Koolen-De Vries Syndrome
Prominent fingertip pads, Everted lower lip vermilion, Pulmonic stenosis, Microcephaly, Intrauter... OMIM:610443
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Hypospadias, 11 pairs of ribs, Hypoplasia of penis, Hydrocephalus, Anophthalmia, ... ORPHA:77298
Biemond Syndrome Type 2
Delayed puberty, Preaxial polydactyly, Microphthalmia, Hypospadias, Hydrocephalus, Coloboma, Shor... ORPHA:141333
Bangstad Syndrome
Hyperinsulinemia, Abnormal testis morphology, Intrauterine growth retardation, Abnormality of the... ORPHA:1227
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Disproportionate short-limb short stature, Hypoplasia of penis, Joint hypermobility, Recurrent fr... ORPHA:2772
Developmental And Epileptic Encephalopathy 80
Proptosis, Death in infancy, Wide mouth, Long philtrum, Short distal phalanx of finger, Ventricul... OMIM:618580
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Short foot, Microcephaly, Obesity, Cryptorchidism, Tapered finger OMIM:309585
Short Stature, Microcephaly, And Endocrine Dysfunction
Long nose, Ectopic kidney, Disproportionate short-limb short stature, Microcephaly, Intrauterine ... OMIM:616541
Meckel Syndrome, Type 8
Polydactyly, Occipital encephalocele, Microphthalmia, Short nose, Enlarged kidney, Encephalocele,... OMIM:613885
Luscan-Lumish Syndrome
Long nose, Advanced ossification of carpal bones, Macrocephaly, Mandibular prognathia, Overgrowth... OMIM:616831
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe... ORPHA:432
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Delayed puberty, Hypoplasia of the corpus callosum, Hypotelorism, Small for gestational age, Olig... OMIM:616817
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Precocious puberty, Aplasia of the phalanges of the 3rd toe, Poly... ORPHA:2229
Periventricular Nodular Heterotopia 7
1-4 toe syndactyly, Dental crowding, Proptosis, Contracture of the proximal interphalangeal joint... OMIM:617201
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Abnormal heart morphology, Syndactyly, Umbilical hernia, Ventriculomegaly, Craniosyn... OMIM:175700
Walker-Warburg Syndrome
Microphthalmia, Hypoplasia of penis, Microcephaly, Bifid uvula, Ventriculomegaly, Abnormal cortic... ORPHA:899
48,Xxyy Syndrome
Tall stature, Hypoplasia of penis, Joint hypermobility, Ventriculomegaly, Taurodontia, Broad jaw,... ORPHA:10
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Cryptorchid... ORPHA:67044
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypoplasia of the corpus callosum, Polymicrogyria, Mandibular prognathia, Gray matter heterotopia... OMIM:604317
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Precocious ... ORPHA:90793
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Delayed puberty, Microcephaly, Intrauterine growth retardation, Joint hypermobility, Long philtru... ORPHA:391408
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short 4th metacarpal, High, narrow palate, Cubitus valgus, Azoospermia, Hydrocephalus, Abnormalit... ORPHA:2183
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Absence of secondary sex characteristics, Pituitary dwarfism, Optic nerve hypopl... ORPHA:95494
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Tall stature, Broad alveolar ridges, Microcephaly, Syndactyly, Intrauterine growt... OMIM:616975
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Hypoplasia of the prostate, Widely spaced toes, Shortening of all middle phalang... OMIM:301900
Fibrous Dysplasia Of Bone
Abnormal femur morphology, Precocious puberty in females, Abnormality of the endocrine system, Ov... ORPHA:249
Trisomy 18P
Thin vermilion border, High, narrow palate, Hypotelorism, Abnormal finger morphology, Narrow mout... ORPHA:1715
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cyclopia, Radial club hand, Proptosis, Microcephaly, Cleft palate, Holoprosencephaly, Abnormal ce... ORPHA:2165
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Optic nerve hypoplasia, Abnormal heart morphology, Cervical ribs, Intrauterin... ORPHA:508488
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Cyclopia, Microphthalmia, Hypotelorism, Orofaci... ORPHA:3186
Holoprosencephaly 14
Subependymal cysts, Microcephaly, Ventriculomegaly, Cyclopia, Proboscis, Hydrocephalus, Anteverte... OMIM:619895
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal interstitial fibrosis, Hypertrophic cardiomyop... OMIM:619902
Short Syndrome
Radial deviation of finger, Dental malocclusion, Slender long bone, Delayed eruption of teeth, Sm... OMIM:269880
Genitourinary And/Or Brain Malformation Syndrome
Gonadal dysgenesis, Clitoral hypertrophy, Joint stiffness, Aplasia of the nasal bone, Colpocephal... OMIM:618820
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Narrow mouth, Postaxial polydactyly, Obesity, Malar flattening, ... OMIM:615984
Hadziselimovic Syndrome
Hypoplasia of the corpus callosum, Thick lower lip vermilion, Hypotelorism, Anteverted nares, Ven... OMIM:612946
Carpenter Syndrome 1
Flared iliac wing, Agenesis of permanent teeth, Pulmonic stenosis, Duplication of the proximal ph... OMIM:201000
Mental retardation, x-linked, syndromic, Turner type
Limited elbow extension, Macrocephaly, Tapered finger, Holoprosencephaly, Macroorchidism OMIM:300706
Holoprosencephaly 3
Abnormality of the nose, Central diabetes insipidus, Cyclopia, Hypotelorism, Proboscis, Single na... OMIM:142945
Neurooculorenal Syndrome
Thin corpus callosum, Intestinal malrotation, Decreased circulating cortisol level, Mitral valve ... OMIM:620305
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Mccune-Albright Syndrome
Abnormal femur morphology, Ovarian cyst, Polyostotic fibrous dysplasia, Monostotic fibrous dyspla... ORPHA:562
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Short nose, Hypoplastic female external genitalia, Long philtr... OMIM:618577
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Hypertrop... OMIM:613673
Emanuel Syndrome
Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Microcephaly, Bifid uvula, Hypogonadis... ORPHA:96170
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Subperiosteal bone formation, Short long bone, Femoral bowing, Short ribs, Ovari... OMIM:618188
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti... ORPHA:2228
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Rocker bottom foot, Progressive microcephaly, Death in infancy, Microcephaly, Bifid uvula, Intrau... OMIM:618622
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Hyperinsulinemia, Precocious puberty in females, Bone cyst, Mandibular prog... ORPHA:528
Distal Deletion 10Q
Inferior cerebellar vermis hypoplasia, Sandal gap, Prominent fingertip pads, Proptosis, Microceph... ORPHA:96148
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Bilateral single transverse palmar creases, Gonadal dysgenesis, Non-midline cleft of the upper li... ORPHA:1770
Multiple Pterygium-Malignant Hyperthermia Syndrome
Broad alveolar ridges, Proptosis, Arachnodactyly, Severe short stature, Small scrotum, Long philt... ORPHA:2215
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Intestinal polyposis, Abnormality of the upper limb, Microcephaly, Intrauterine g... ORPHA:1052
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Severe failure to thrive, Hypoplastic nasal tip, Clubbing of fingers, Single transverse palmar cr... ORPHA:3304
Meckel Syndrome 14
Pneumothorax, Occipital encephalocele, Microphthalmia, Retrognathia, Anteverted nares, Polycystic... OMIM:619879
Diarrhea 13
Hepatic steatosis, Failure to thrive, Elevated circulating hepatic transaminase concentration OMIM:620357
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Congenital Disorder Of Glycosylation, Type Iia
Retrognathia, Proximal placement of thumb, Everted lower lip vermilion, Microcephaly, Wide mouth,... OMIM:212066
Harrod Syndrome
Long nose, Abnormal shoulder morphology, Hypotelorism, Hypospadias, High palate, Abnormal pelvic ... ORPHA:2115
Pituitary Stalk Interruption Syndrome
Delayed puberty, Diabetes insipidus, Hypoplasia of penis, Adrenal hypoplasia, Septo-optic dysplas... ORPHA:95496
Charge Syndrome
Delayed puberty, Microphthalmia, Anosmia, Absent tibia, Tracheoesophageal fistula, Pulmonic steno... OMIM:214800
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Holoprosencephaly 7
Microphthalmia, Solitary median maxillary central incisor, Bilateral cleft palate, Shallow orbits... OMIM:610828
19P13.12 Microdeletion Syndrome
Sandal gap, Proptosis, Microcephaly, Intrauterine growth retardation, Ventriculomegaly, Craniosyn... ORPHA:254346
Williams-Beuren Region Duplication Syndrome
Hypoplasia of the corpus callosum, Decreased response to growth hormone stimulation test, Macroce... OMIM:609757
Holoprosencephaly 2
Microphthalmia, Solitary median maxillary central incisor, Bilateral cleft palate, Proptosis, Mic... OMIM:157170
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Everted lower lip vermilion, Umbilical hernia, Overlapping toe, Hip dislocation, ... OMIM:613884
Donohue Syndrome
Postnatal growth retardation, Clitoral hypertrophy, Hyperinsulinemia, Severe failure to thrive, T... OMIM:246200
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Postnatal growth retardation, Secondary microcephaly, Hypotelorism, Broad secondary alveolar ridg... ORPHA:3369
Acrootoocular Syndrome
Wide nasal base, Sandal gap, Short metacarpal, Prominent calcaneus, Microcephaly, Palmar hyperker... ORPHA:2980
Mosaic Variegated Aneuploidy Syndrome 2
Severe intrauterine growth retardation, Microcephaly, Intrauterine growth retardation, Craniosyno... OMIM:614114
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Bicuspid aortic valve, Short 4th metac... ORPHA:1772
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Hypoplasia of penis, Abnormality of the philt... ORPHA:2935
Microphthalmia, Syndromic 2
Microphthalmia, Sandal gap, Bifid nasal tip, Pulmonic stenosis, Aortic valve stenosis, Microcepha... OMIM:300166
Culler-Jones Syndrome
Hypotelorism, Diabetes insipidus, Anterior pituitary hypoplasia, Postaxial polydactyly, Short sta... OMIM:615849
Ring Chromosome 7 Syndrome
Severe intrauterine growth retardation, Microcephaly, Bifid uvula, Hypogonadism, Short 5th finger... ORPHA:1449
Li-Ghorbani-Weisz-Hubshman Syndrome
Hypoplasia of the corpus callosum, Hypotelorism, Clinodactyly of the 5th finger, Ventriculomegaly... OMIM:618974
Down Syndrome
Delayed puberty, Bilateral single transverse palmar creases, Sandal gap, Microdontia, Umbilical h... ORPHA:870
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypotelorism, Unilateral renal agenesis, Hyposmia, Anosmia, Cleft upper lip, Cleft palate, Primar... OMIM:244200
Aa Amyloidosis
Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Hepatomegaly, Nephrotic syndrome... ORPHA:85445
14Q22Q23 Microdeletion Syndrome
Bilateral single transverse palmar creases, Proptosis, Small scrotum, Ventriculomegaly, Short 4th... ORPHA:264200
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... OMIM:613496
Cerebrooculonasal Syndrome
Solitary median maxillary central incisor, Optic nerve hypoplasia, Broad philtrum, Long philtrum,... OMIM:605627
Filippi Syndrome
Proptosis, Microdontia, Microcephaly, 2-4 toe syndactyly, Intrauterine growth retardation, Short ... OMIM:272440
Chung-Jansen Syndrome
Short nose, Long philtrum, Thin vermilion border, Clinodactyly of the 5th finger, Short philtrum,... OMIM:617991
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Bardet-Biedl Syndrome 16
Polydactyly, External genital hypoplasia, Bronchiolitis, Renal cyst, Short stature, Obesity, Hypo... OMIM:615993
Marshall-Smith Syndrome
Short nose, Retrognathia, Reduced bone mineral density, Craniosynostosis, Slender long bone, Ante... ORPHA:561
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Short nose, Hypotelorism, Single transverse palmar crease, Anteverted nares, Glossoptosis, High p... OMIM:613604
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Pulmonic stenosis, Severe short stature, Intrauter... OMIM:601186
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteolysis involving bones of the lower limbs, Premature thelarche, Nodular goiter, Mitral valve ... ORPHA:371428
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Clitoral hy... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Clitoral hy... ORPHA:168558
Acalvaria
Abnormal lung lobation, Hydrocephalus, Postaxial hand polydactyly, Spina bifida, Abnormality of n... ORPHA:945
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cerebral atrophy, Abnormal cortical bone morphology, Cholelithiasis, Hydrocephalus, Decreased bod... OMIM:614886
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Thin corpus callosum, Dilation of Virchow-Robin spaces, Hypoplastic coccygeal vertebrae, Dislocat... OMIM:619512
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Bifid uvula, Intrauterine growth retardation, Joint hypermobility, Clinodactyly, Short philtrum, ... ORPHA:96184
Bardet-Biedl Syndrome 10
Polydactyly, Renal cyst, Obesity, Hypogonadism, Renal insufficiency OMIM:615987
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the corpus callosum, Hydranencephaly, Limitation of joint mobility, Microce... ORPHA:2570
Lig4 Syndrome
Hypotelorism, Clinodactyly of the 5th finger, Small for gestational age, Hypothyroidism, Failure ... OMIM:606593
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Microcephaly, Intestinal malrotation, Syndactyly, Enamel agenesis, Long philtrum, Ventriculomegal... OMIM:614701
Acrodysostosis 1 With Or Without Hormone Resistance
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Cone-shaped epi... OMIM:101800
Mehmo Syndrome
External genital hypoplasia, Hypoplasia of penis, Cryptorchidism, Growth delay, Microcephaly, Obe... ORPHA:85282
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve hypoplasia, Hypothalamic hamartoma, Microcephaly, Hypospadias, Crypto... OMIM:206900
Fg Syndrome Type 1
Small pituitary gland, Clinodactyly of the 2nd finger, Optic nerve hypoplasia, Dental crowding, W... ORPHA:93932
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Generalized lipodystrophy, Reduced subcutaneous adipose tissue, Hepatosplenomegaly,... OMIM:612526
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Bifid uvula, Joint hypermobility, Ventriculomegaly, Long philtrum, Hip dislocation, Abnormal cort... OMIM:300968
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Retrognathia, Abnormality of the endocrine system, Microcephaly, Long philtrum, Anteverted nares,... ORPHA:464288
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormal spermatogenesis, Bifid scrotum, Abnormali... ORPHA:261529
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short ribs, Decreased skull ossification, Microcephaly, Multiple prenatal fractures, Unilateral c... OMIM:616897
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Narrow greater sciatic notch, Dislocated radial head, Microcephaly, Short humerus, Hip dislocatio... OMIM:602471
Chromosome Xq27.3-Q28 Duplication Syndrome
Thin vermilion border, Small for gestational age, Short foot, Bulbous nose, Decreased testicular ... OMIM:300869
Cutis Laxa, Autosomal Recessive, Type Iiia
Hypotelorism, Joint hypermobility, Narrow nasal ridge, Narrow mouth, Congenital hip dislocation, ... OMIM:219150
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed puberty, Long nose, Everted lower lip vermilion, Microcephaly, Intrauterine growth retard... OMIM:615866
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Pituitary dwarfism, Decreased thyroid-stimulating hormone level, Optic nerve hypoplasia, Thyroid ... ORPHA:226307
Emanuel Syndrome
Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Microcephaly, Recurrent sinusitis, Int... OMIM:609029
Holoprosencephaly 1
Cyclopia, Microphthalmia, Hypotelorism, Proboscis, Diabetes insipidus, Alobar holoprosencephaly, ... OMIM:236100
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Long nose, Macrocephaly, Hypotelorism, Short philtrum, Cerebellar vermis hypoplasia, Mandibular p... OMIM:300486
Bardet-Biedl Syndrome 19
Hypoplasia of the corpus callosum, External genital hypoplasia, Hyposmia, Y-shaped metacarpals, P... OMIM:615996
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Radial deviation of finger, Hypoplastic philtrum, Microcephaly, Wide mouth, Hypogonadism, Small s... OMIM:309580
Ataxia-Telangiectasia
Delayed puberty, Recurrent respiratory infections, Abnormal testis morphology, Short stature, Fai... ORPHA:100
Intellectual Developmental Disorder, Autosomal Recessive 5
Postnatal growth retardation, Hypotelorism, Small for gestational age, Short philtrum, 4-5 toe sy... OMIM:611091
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... OMIM:232700
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Townes-Brocks Syndrome 1
Clinodactyly of the 5th toe, Bifid scrotum, Tracheoesophageal fistula, Broad thumb, Microcephaly,... OMIM:107480
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Reduced bone mineral densit... ORPHA:243
Fraser Syndrome 1
Clitoral hypertrophy, Dental crowding, Myelomeningocele, Microcephaly, Abnormal heart morphology,... OMIM:219000
Proteus-Like Syndrome
Bronchogenic cyst, Macrocephaly, Venous insufficiency, Hydrocephalus, Anteverted nares, Mandibula... ORPHA:2969
Congenital Disorder Of Glycosylation, Type Iie
Retrognathia, Progressive microcephaly, Death in infancy, Intrauterine growth retardation, Adduct... OMIM:608779
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Microphthalmia, Sandal gap, Abnormality of the upper ... ORPHA:1106
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Coloboma, Short stature, Cleft palate, Join... OMIM:610125
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Short ribs, Microcephaly, Aplasia of the epiglottis, Cerebellar vermis h... OMIM:615948
Peters Plus Syndrome
Ureteral duplication, Disproportionate short-limb short stature, Pulmonic stenosis, Microcephaly,... ORPHA:709
Diabetic Embryopathy
Tall stature, Transposition of the great arteries, Ureteral duplication, Aplasia/Hypoplasia of th... ORPHA:1926
X-Linked Intellectual Disability, Snyder Type
Megalencephaly, Ectopic kidney, Dental crowding, Proptosis, Everted lower lip vermilion, Arachnod... ORPHA:3063
Coffin-Siris Syndrome 1
Retrognathia, Clitoral hypertrophy, Duodenal ulcer, Ectopic kidney, Sandal gap, Dislocated radial... OMIM:135900
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Hypopl... ORPHA:3409
Craniofacial Conodysplasia
Spinal cord compression ORPHA:85168
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Postnatal growth retardation, Acromicria, Relative macrocephaly, Short foot, Precocious puberty, ... ORPHA:254525
Trigonocephaly 1
Short nose, High, narrow palate, Hypotelorism, Long penis, Meckel diverticulum, Microcephaly, Lon... OMIM:190440
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Infertility, Oligomenorrhea, Polycy... ORPHA:280356
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Short nose, Thin vermilion border, Abnormal palate morphology, Thick lower lip vermilion, Hydroce... ORPHA:2701
Hartsfield Syndrome
Microcephaly, Syndactyly, Craniosynostosis, Hypospadias, Diabetes insipidus, Gonadotropin deficie... OMIM:615465
Holoprosencephaly 13, X-Linked
Solitary median maxillary central incisor, Optic nerve hypoplasia, Septo-optic dysplasia, Microce... OMIM:301043
Fanconi Anemia, Complementation Group D2
Microphthalmia, Ectopic kidney, Tracheoesophageal fistula, Aplasia of the 1st metacarpal, Microce... OMIM:227646
Trigonocephaly With Short Stature And Developmental Delay
Lambdoidal craniosynostosis, Hypotelorism, Clinodactyly of the 5th finger, Broad alveolar ridges,... OMIM:314320
Orofaciodigital Syndrome Type 4
Retrognathia, Proptosis, Microcephaly, Abnormal oral frenulum morphology, Bifid uvula, Severe sho... ORPHA:2753
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Increased adipose tissue, Obesity ORPHA:71529
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormality of the wrist, ... ORPHA:2511
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Long philtrum, Hypotelorism, Joint hypermobility, Hydrocephalus, Narrow nasal ridge, ... OMIM:612940
Dyssegmental Dysplasia, Silverman-Handmaker Type
Miscarriage, Short long bone, Proptosis, Short ribs, Hypoplastic ischia, Microcephaly, Abnormal h... ORPHA:1865
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Short nose, External genital hypoplasia, Hypotelorism, Dental malocclusion, Progressi... ORPHA:329178
Neu-Laxova Syndrome
Retrognathia, Cerebral calcification, Proptosis, Everted lower lip vermilion, Microcephaly, Bifid... ORPHA:2671
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Inferior cerebellar vermis hypoplasia, Proximal placement of thumb, Anophthalmia,... ORPHA:139471
Cranioectodermal Dysplasia
Abnormal metaphysis morphology, Rhizomelia, Hypotelorism, Clinodactyly of the 5th finger, Abnorma... ORPHA:1515
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Wide mouth, Joint hypermobility, Ventriculomegaly, Long philtrum, Cone-shaped epiphysis, Short fi... OMIM:618659
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Baraitser-Winter Syndrome 1
Retrognathia, Microphthalmia, Aortic valve stenosis, Microcephaly, Wide mouth, Bicuspid aortic va... OMIM:243310
Monosomy 18P
Microphthalmia, Short philtrum, Tooth malposition, Hypodontia, Hypothyroidism, Short stature, Car... ORPHA:1598
Meckel Syndrome
Microphthalmia, Ureteral duplication, Anencephaly, Microcephaly, Pancreatic fibrosis, Encephaloce... ORPHA:564
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal metacarpal morphology, High palate, Abnormal testis morphology, Short stature, Obesity, ... ORPHA:2233
Bardet-Biedl Syndrome 4
Polydactyly, External genital hypoplasia, Abnormality of the dentition, Renal cyst, Obesity, Synd... OMIM:615982
Kleefstra Syndrome
Hypoplasia of penis, Everted lower lip vermilion, Microcephaly, Bicuspid aortic valve, Ventriculo... ORPHA:261494
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
8P23.1 Microdeletion Syndrome
Proximal placement of thumb, Broad thumb, Microcephaly, Intrauterine growth retardation, Abnormal... ORPHA:251071
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Short stature, Obesity, Cryptorchidism ORPHA:3055
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Reduced bon... ORPHA:90796
Smith-Magenis Syndrome
Delayed puberty, Microcephaly, Joint stiffness, Ventriculomegaly, Delayed eruption of primary tee... ORPHA:819
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Situs inversus totalis, ... OMIM:602088
Achondrogenesis, Type Ia
Hypoplastic sacrum, Abnormal hand bone ossification, Short ribs, Decreased skull ossification, Hy... OMIM:200600
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Postnatal growth retardation, Maturity-onset diabetes of the young, Wide nose, Short philtrum, Hi... ORPHA:254531
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Ambiguous genitalia, Adrenogenital syndrome, Male pseudohermaphroditism OMIM:202110
Bardet-Biedl Syndrome
Retrognathia, Childhood-onset truncal obesity, Chronic kidney disease, Abnormality of the endocri... ORPHA:110
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Distal Deletion 15Q
Abnormal aortic arch morphology, Microcephaly, Double outlet right ventricle with doubly committe... ORPHA:1596
Obesity Due To Prohormone Convertase I Deficiency
Childhood-onset truncal obesity, Increased adipose tissue, Cholestasis, Failure to thrive, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Childhood-onset truncal obesity, Increased adipose tissue, Cholestasis, Failure to thrive, Obesity ORPHA:71526
Cohen Syndrome
Delayed puberty, Microphthalmia, Abnormal hip bone morphology, Sandal gap, Tooth agenesis, Microc... ORPHA:193
48,Xxxy Syndrome
Tall stature, Hypoplasia of penis, Hypogonadism, Abnormal epiphysis morphology, Small scrotum, Jo... ORPHA:96263
Prader-Willi Syndrome
Delayed puberty, Radial deviation of finger, Syndactyly, Small scrotum, Intrauterine growth retar... OMIM:176270
Fanconi Anemia
Abnormal carotid artery morphology, Microphthalmia, Abnormal femur morphology, Arteriovenous malf... ORPHA:84
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia, Anencephaly, Bifid scrotum, Pulmonic stenosis, Microcephaly, Left ventricular hyp... OMIM:619148
1Q21.1 Microdeletion Syndrome
Microphthalmia, Broad thumb, Microcephaly, Intrauterine growth retardation, Joint hypermobility, ... ORPHA:250989
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities... OMIM:619737
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... OMIM:620135
Angelman Syndrome
Cerebral dysmyelination, Widely spaced teeth, Precocious puberty in females, Mandibular prognathi... ORPHA:72
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Tatton-Brown-Rahman Syndrome
Widely-spaced maxillary central incisors, Widely spaced toes, Macrocephaly, Patent ductus arterio... ORPHA:404443
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Intellectual Developmental Disorder, Autosomal Recessive 13
Hypoplasia of the corpus callosum, Secondary microcephaly, Inferior cerebellar vermis hypoplasia,... OMIM:613192
Aarskog-Scott Syndrome
Delayed puberty, Radial deviation of finger, Elevated circulating luteinizing hormone level, Synd... OMIM:305400
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Everted lower lip vermilion, Hypogonadism, External genital hypoplasia, Short philtrum, 4-5 toe s... ORPHA:3041
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Stankiewicz-Isidor Syndrome
Retrognathia, Ureteral duplication, Hypospadias, 2-3 toe syndactyly, Truncus arteriosus, Ventricu... OMIM:617516
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Diastrophic Dysplasia
Proximal placement of thumb, Cerebral calcification, Joint stiffness, Symphalangism affecting the... ORPHA:628
Fraser Syndrome
Microphthalmia, Hypoplasia of penis, Abnormal vagina morphology, Dental crowding, Myelomeningocel... ORPHA:2052
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Hartsfield Syndrome
Microphthalmia, Encephalocele, Non-midline cleft of the upper lip, Split hand, Lobar holoprosence... ORPHA:2117
Tetralogy Of Fallot
Thin vermilion border, Clinodactyly of the 5th finger, Proptosis, Tetralogy of Fallot, Abnormal n... ORPHA:3303
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hepatic steatosis, Hepatomegaly, Pancreatitis ORPHA:79084
Clark-Baraitser syndrome
Tall stature, Genu valgum, Macrocephaly, Thick lower lip vermilion, Anteverted nares, Prominent m... OMIM:300602
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Macrocephaly, Megalencephaly, Hydrocephalus, Polymicrogyria, Postaxial hand polydactyly, Syndacty... OMIM:615938
Lowry-Maclean Syndrome
Retrognathia, Proptosis, Microcephaly, Short nasal bridge, Intrauterine growth retardation, Crani... ORPHA:2409
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, Oc... ORPHA:98754
Trisomy 5P
Macrocephaly, Abnormal metacarpal morphology, Hypoplasia of penis, Short stature, Obesity, Ventri... ORPHA:1742
Perrault Syndrome 4
Premature ovarian insufficiency, Cubitus valgus, Hypoplasia of the ovary, Secondary amenorrhea, B... OMIM:615300
Inverted Duplicated Chromosome 15 Syndrome
Gonadal dysgenesis, Clinodactyly of the 5th finger, Unilateral renal agenesis, Short philtrum, 2-... ORPHA:3306
Desmosterolosis
Retrognathia, Microcephaly, Intestinal malrotation, Bifid uvula, Severe short stature, Intrauteri... ORPHA:35107
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Satoyoshi Syndrome
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormality of the wrist, Abnormal hip... ORPHA:3130
Prader-Willi Syndrome
Small pituitary gland, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyr... ORPHA:739
Infantile Systemic Hyalinosis
Osteopenia, Abnormality of the adrenal glands, Macrocephaly, Steatorrhea, Osteomalacia, Gingival ... ORPHA:2176
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Joubert Syndrome 37
Hypoplasia of the corpus callosum, Microphthalmia, Wide nose, Cerebellar vermis hypoplasia, Antev... OMIM:619185
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Nephrotic syndrome, Proteinuria, Membranoproliferative glomerulonephritis, Polycystic ... OMIM:608709
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short nose, Anteverted nares, Macroglossia, Bronchiectasis, Short stature, Sinusitis, Micrognathi... OMIM:242860
Joubert Syndrome 1
Macrocephaly, Cerebellar vermis hypoplasia, Anteverted nares, Postaxial hand polydactyly, Nephrop... OMIM:213300
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Tracheobronchomalacia, Abnormal periventricular white matter morphology, Microcephaly, Abnormal h... ORPHA:500159
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, Oc... ORPHA:177901
Lissencephaly, X-Linked, 1
Postnatal growth retardation, Agyria, Gray matter heterotopia, Death in infancy, Pachygyria, Agen... OMIM:300067
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Retrognathia, Colpocephaly, Long philtrum, Ventriculomegaly, Short philtrum, Hydrocephalus, Polym... OMIM:620156
Trisomy 17P
Hypoplasia of penis, Aortic valve stenosis, Microcephaly, Urethral valve, Wide mouth, Urethral st... ORPHA:261290
Developmental And Epileptic Encephalopathy 36
Cerebral atrophy, Macrocephaly, Hydrocephalus, Anteverted nares, Microcephaly, Flexion contractur... OMIM:300884
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, Oc... ORPHA:98793
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Radio-Tartaglia Syndrome
Retrognathia, Dental crowding, Microcephaly, Wide mouth, Long philtrum, Short philtrum, Anteverte... OMIM:619312
Kallmann Syndrome
Delayed puberty, Reduced bone mineral density, Erectile dysfunction, Hypoplasia of penis, Dyspare... ORPHA:478
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:601820
Cowden Syndrome 6
Thyroiditis, High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hypothyroidism,... OMIM:615109
Congenital Disorder Of Glycosylation, Type Iig
Progressive microcephaly, Short long bone, Proptosis, Glossoptosis, Microcephaly, Broad femoral n... OMIM:611209
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Aminopterin Syndrome Sine Aminopterin
Megalencephaly, Macrocephaly, Microcephaly, Oligodontia, Decreased body weight, High palate, Umbi... OMIM:600325
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Penoscrotal hypospadias, Hypospadias, Perineal hypospadias, Increased circula... OMIM:201810
Schaaf-Yang Syndrome
Rocker bottom foot, Retrognathia, Mandibular prognathia, Abnormality of the philtrum, Tapered fin... OMIM:615547
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, Oc... ORPHA:177904
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Unicornuate uterus OMIM:600776
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Intellectual Developmental Disorder, Autosomal Dominant 7
Thick lower lip vermilion, Hypotelorism, Small for gestational age, Short stature, Microcephaly, ... OMIM:614104
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Pulmonic stenosis, Microcephaly, Intrauterine growth retardation, Ventriculomegaly... OMIM:257300
Focal Dermal Hypoplasia
Midclavicular aplasia, Microphthalmia, Ureteral duplication, Aniridia, Short ribs, Short metacarp... OMIM:305600
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Hepatomegaly ORPHA:2432
6P22 Microdeletion Syndrome
Abnormal palate morphology, Hypotelorism, Hydrocephalus, Finger syndactyly, Hydronephrosis, Paten... ORPHA:251046
Bresek Syndrome
Microphthalmia, Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Vesicoureteral refl... ORPHA:85284
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebral atrophy, Secondary amenorrhea, Hypergonadotropic hypogonadism, Short stature, Broad palm... OMIM:268020
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Microcephaly, Wide mouth, Long philtrum, Ventriculomegaly, Overlapping toe, Craniosynostosis, Cli... OMIM:309590
Trichothiodystrophy
Gonadal dysgenesis, Retrognathia, Cerebral dysmyelination, Clubbing, Cardiomyopathy, Recurrent br... ORPHA:33364
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Icf Syndrome
Macrocephaly, Communicating hydrocephalus, Short stature, Protruding tongue, Micrognathia, Umbili... ORPHA:2268
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Lenz-Majewski Hyperostotic Dwarfism
Relative macrocephaly, Microcephaly, Syndactyly, Intrauterine growth retardation, Ventriculomegal... OMIM:151050
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia OMIM:256450
Cockayne Syndrome Type 2
Hypoplasia of the primary teeth, Anophthalmia, Mandibular prognathia, Cryptorchidism, Enamel hypo... ORPHA:90322
Wiedemann-Rautenstrauch Syndrome
Narrow nasal ridge, Proptosis, Short humerus, Hypoplastic facial bones, Intrauterine growth retar... OMIM:264090
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Delayed menarche, Testicular atrophy, Olig... ORPHA:52901
Laurence-Moon Syndrome
Bilateral single transverse palmar creases, Hypoplasia of penis, Finger syndactyly, Short stature... ORPHA:2377
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Hypoplasia ... ORPHA:168563
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Cowden Syndrome 1
Narrow mouth, Thyroiditis, High palate, Furrowed tongue, Hemimegalencephaly, Hamartomatous polypo... OMIM:158350
Vissers-Bodmer Syndrome
Tall stature, Decreased head circumference, Decreased body weight, Short stature, Holoprosencepha... OMIM:619033
Cowden Syndrome 5
Thyroiditis, High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hypothyroidism,... OMIM:615108
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Cerebral atrophy, Joint hypermobility, Single transverse palmar crease, Mandibular prognathia, Pr... OMIM:617804
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Femoral bowing, Proptosis, Bifid first metacarpal, Short metacarpal, Death i... OMIM:210710
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Retrognathia, Microcephaly, Intrauterine growth retardation, Overlapping toe, Hypoplastic right h... OMIM:618142
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Microdontia, Split foot, Microcephaly, Ureterocele, Abnormal nasopharynx morphology, Transverse v... OMIM:129900
Microphthalmia With Linear Skin Defects Syndrome
Retrognathia, Clitoral hypertrophy, Microphthalmia, Abnormal rectum morphology, Microcephaly, Sev... ORPHA:2556
Apert Syndrome
Limited elbow movement, Megalencephaly, Proptosis, Shallow orbits, Broad thumb, Bifid uvula, Synd... OMIM:101200
Intellectual Developmental Disorder, Autosomal Dominant 53
Genu valgum, Hypotelorism, Macrocephaly, Overgrowth, Cryptorchidism, Growth delay, Microcephaly, ... OMIM:617798
Williams Syndrome
Abnormal carotid artery morphology, Everted lower lip vermilion, Wide mouth, Joint hypermobility,... ORPHA:904
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Ulnar-Mammary Syndrome
Delayed puberty, Aplasia of the 4th metacarpal, Stiff elbow, Short humerus, Absent radius, Aplasi... OMIM:181450
Yunis-Varon Syndrome
Rocker bottom foot, Clitoral hypertrophy, Microphthalmia, Broad secondary alveolar ridge, Absent ... ORPHA:3472
Idiopathic Copper-Associated Cirrhosis
Copper accumulation in liver, Cirrhosis, Hepatic steatosis ORPHA:209919
Primary Ciliary Dyskinesia
Abnormal atrial arrangement, Clubbing, Abnormal inferior vena cava morphology, Intestinal malrota... ORPHA:244
Schilbach-Rott Syndrome
Long nose, 2-3 toe cutaneous syndactyly, Hypotelorism, Hypospadias, Narrow mouth, Prominent nose,... OMIM:164220
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Splenomegaly OMIM:615285
Beemer Lethal Malformation Syndrome
Hydrocephalus, Ambiguous genitalia, Wide nasal bridge OMIM:209970
Congenital Sialidosis Type 2
Polydactyly, Macrocephaly, Hydrocephalus, Gingival overgrowth, Protruding tongue, Abnormal heart ... ORPHA:93400
Acrodysostosis
Abnormal female external genitalia morphology, Abnormal femur morphology, Short metacarpal, Hypog... ORPHA:950
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Retrognathia, Abnormal female external genitalia morphology, Hypoplastic iliac wing, Microdontia,... ORPHA:2637
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Abnormal hip bone morphology, Abnormal lung morphology, Congenital malfo... ORPHA:294975
Carney Complex
Ductal carcinoma in situ, Tall stature, Neoplasm of the pancreas, Neoplasm of the stomach, Increa... ORPHA:1359
Acrodysostosis 2 With Or Without Hormone Resistance
Short nose, Hypospadias, Short metatarsal, Anteverted nares, Mandibular prognathia, Short metacar... OMIM:614613
Coffin-Siris Syndrome 12
Broad thumb, Microcephaly, Noncommunicating hydrocephalus, Joint hypermobility, Hypospadias, Ante... OMIM:619325