MENTAL RETARDATION, X-LINKED 91

General Information (adopted from Orphanet):

Synonyms, Signs: MRX91
Number of Symptoms 17
OrphanetNr:
OMIM Id: 300577
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:0001999) Abnormal facial shape 169 / 7739
2
(HPO:0000218) High palate 356 / 7739
3
(HPO:0001572) Macrodontia 9 / 7739
4
(HPO:0002162) Low posterior hairline 88 / 7739
5
(HPO:0003196) Short nose 264 / 7739
6
(HPO:0000286) Epicanthus 371 / 7739
7
(HPO:0001263) Global developmental delay 853 / 7739
8
(HPO:0001256) Intellectual disability, mild 141 / 7739
9
(HPO:0001344) Absent speech 57 / 7739
10
(HPO:0001250) Seizures 1245 / 7739
11
(HPO:0002967) Cubitus valgus 49 / 7739
12
(HPO:0009237) Short 5th finger 16 / 7739
13
(HPO:0200055) Small hand 71 / 7739
14
(HPO:0001773) Short foot 86 / 7739
15
(HPO:0001513) Obesity 172 / 7739
16
(HPO:0006829) Severe muscular hypotonia 29 / 7739
17
(HPO:0001417) X-linked inheritance 173 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gustavson et al. (1984) reported a girl with a developmental history and features typical of Prader-Willi syndrome (PWS; 176270), including muscular hypotonia that was severe in infancy, pronounced early childhood obesity, small hands and feet, shortness of the ...