Dysmorphism - short stature - deafness - disorder of sex development

General Information (adopted from Orphanet):

Synonyms, Signs: Dysmorphism - short stature - deafness - pseudohermaphroditism
Number of Symptoms 31
OrphanetNr: 2282
OMIM Id:
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndrome with 46,XY disorder of sex development
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare urogenital disease
Syndrome with disorder of sex development of gynecological interest
 -Rare genetic disease
 -Rare gynecologic or obstetric disease

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
2
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
3
 (HPO:0000062) Ambiguous genitalia Frequent [Orphanet] 74 / 7739
4
 (HPO:0000049) Shawl scrotum Frequent [Orphanet] 31 / 7739
5
 (HPO:0000054) Micropenis Frequent [Orphanet] 257 / 7739
6
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
7
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
8
 (HPO:0011331) Hemifacial atrophy Very frequent [Orphanet] 79 / 7739
9
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
10
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
11
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
12
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
13
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
14
 (HPO:0000457) Depressed nasal ridge Very frequent [Orphanet] 85 / 7739
15
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
16
 (HPO:0002553) Highly arched eyebrow Very frequent [Orphanet] 92 / 7739
17
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
18
 (HPO:0000405) Conductive hearing impairment Very frequent [Orphanet] 164 / 7739
19
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Very frequent [Orphanet] 67 / 7739
20
 (HPO:0001347) Hyperreflexia Very frequent [Orphanet] 363 / 7739
21
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
22
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
23
 (HPO:0002817) Abnormality of the upper limb Frequent [Orphanet] 25 / 7739
24
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
25
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
26
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
27
 (HPO:0001643) Patent ductus arteriosus Frequent [Orphanet] 228 / 7739
28
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
29
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
30
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
31
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: