MENTAL RETARDATION, AUTOSOMAL DOMINANT 17

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 21
OrphanetNr:
OMIM Id: 615009
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
3
 (HPO:0000294) Low anterior hairline 52 / 7739
4
 (HPO:0000414) Bulbous nose 63 / 7739
5
 (HPO:0000664) Synophrys 112 / 7739
6
 (HPO:0000527) Long eyelashes 46 / 7739
7
 (HPO:0000319) Smooth philtrum 72 / 7739
8
 (HPO:0002553) Highly arched eyebrow 92 / 7739
9
 (HPO:0000316) Hypertelorism 644 / 7739
10
 (HPO:0000369) Low-set ears 372 / 7739
11
 (HPO:0000400) Macrotia 108 / 7739
12
 (HPO:0001263) Global developmental delay 853 / 7739
13
 (HPO:0001249) Intellectual disability 1089 / 7739
14
 (HPO:0001250) Seizures 1245 / 7739
15
 (HPO:0011098) Speech apraxia 9 / 7739
16
 (HPO:0006610) Wide intermamillary distance 46 / 7739
17
 (HPO:0001763) Pes planus 176 / 7739
18
 (HPO:0001195) Single umbilical artery 23 / 7739
19
 (HPO:0002580) Volvulus 10 / 7739
20
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
21
 (HPO:0002389) Cavum septum pellucidum 13 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: