MENTAL RETARDATION, AUTOSOMAL DOMINANT 27

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 26
OrphanetNr:
OMIM Id: 615866
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:0005280) Depressed nasal bridge 381 / 7739
2
 (HPO:0009929) Abnormality of the columella 1 / 7739
3
 (HPO:0000194) Open mouth 70 / 7739
4
 (HPO:0002553) Highly arched eyebrow 92 / 7739
5
 (HPO:0001999) Abnormal facial shape 169 / 7739
6
 (HPO:0000527) Long eyelashes 46 / 7739
7
 (HPO:0003196) Short nose 264 / 7739
8
 (HPO:0012471) Thick vermilion border 115 / 7739
9
 (HPO:0000293) Full cheeks 85 / 7739
10
 (HPO:0000331) Short chin 33 / 7739
11
 (HPO:0000322) Short philtrum 130 / 7739
12
 (HPO:0003189) Long nose 20 / 7739
13
 (HPO:0009891) Underdeveloped supraorbital ridges 36 / 7739
14
 (HPO:0011800) Midface retrusion 221 / 7739
15
 (HPO:0005288) Abnormality of the nares 3 / 7739
16
 (HPO:0000252) Microcephaly 832 / 7739
17
 (HPO:0000430) Underdeveloped nasal alae 90 / 7739
18
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
19
 (HPO:0000369) Low-set ears 372 / 7739
20
 (HPO:0001249) Intellectual disability 1089 / 7739
21
 (HPO:0009882) Short distal phalanx of finger 125 / 7739
22
 (HPO:0001510) Growth delay 295 / 7739
23
 (HPO:0011937) Hypoplastic fifth toenail 1 / 7739
24
 (HPO:0000998) Hypertrichosis 52 / 7739
25
 (HPO:0012745) Short palpebral fissure 47 / 7739
26
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: