MENTAL RETARDATION, AUTOSOMAL DOMINANT 26

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 18
OrphanetNr:
OMIM Id: 615834
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:0005274) Prominent nasal tip 6 / 7739
2
 (HPO:0000160) Narrow mouth 188 / 7739
3
 (HPO:0000252) Microcephaly 832 / 7739
4
 (HPO:0001999) Abnormal facial shape 169 / 7739
5
 (HPO:0000316) Hypertelorism 644 / 7739
6
 (HPO:0000322) Short philtrum 130 / 7739
7
 (HPO:0000508) Ptosis 459 / 7739
8
 (HPO:0000717) Autism 108 / 7739
9
 (HPO:0100021) Cerebral palsy 36 / 7739
10
 (HPO:0001249) Intellectual disability 1089 / 7739
11
 (HPO:0002650) Scoliosis 705 / 7739
12
 (HPO:0002808) Kyphosis 289 / 7739
13
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
14
 (HPO:0006184) Decreased palmar creases 5 / 7739
15
 (HPO:0011968) Feeding difficulties 240 / 7739
16
 (HPO:0004322) Short stature 1232 / 7739
17
 (HPO:0012745) Short palpebral fissure 47 / 7739
18
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: