MENTAL RETARDATION, X-LINKED 72

General Information (adopted from Orphanet):

Synonyms, Signs: MRX72
Number of Symptoms 11
OrphanetNr:
OMIM Id: 300271
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000256) Macrocephaly 298 / 7739
2
 (HPO:0000276) Long face 109 / 7739
3
 (HPO:0000268) Dolichocephaly 144 / 7739
4
 (HPO:0001263) Global developmental delay 853 / 7739
5
 (HPO:0001249) Intellectual disability 1089 / 7739
6
 (HPO:0000752) Hyperactivity 140 / 7739
7
 (HPO:0000733) Stereotypy 58 / 7739
8
 (HPO:0001250) Seizures 1245 / 7739
9
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
10
 (OMIM) [DEL]Autistic features 43 / 7739
11
 (OMIM) Limited memory, attention, language 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Russo et al. (2000) reported a 3-generation Sardinian family segregating X-linked mental retardation. Three affected individuals had seizures and 1 had features of autism (see 209850).

Giannandrea et al. (2010) reported a large family with X-linked ...
Molecular genetics OMIM In 2 unrelated families with X-linked mental retardation, including the family reported by Russo et al. (2000), Giannandrea et al. (2010) identified 2 different hemizygous loss-of-function mutations in the RAB39B gene (300774.0001-300774.0002) that segregated with the disorder.