MENTAL RETARDATION, X-LINKED 93

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY
MRX93
Number of Symptoms 16
OrphanetNr:
OMIM Id: 300659
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:0000028) Cryptorchidism 347 / 7739
2
(HPO:0000276) Long face 109 / 7739
3
(HPO:0011220) Prominent forehead 137 / 7739
4
(HPO:0000256) Macrocephaly 298 / 7739
5
(HPO:0002007) Frontal bossing 366 / 7739
6
(HPO:0000400) Macrotia 108 / 7739
7
(HPO:0000378) Cupped ear 34 / 7739
8
(HPO:0000750) Delayed speech and language development 197 / 7739
9
(HPO:0001256) Intellectual disability, mild 141 / 7739
10
(HPO:0001763) Pes planus 176 / 7739
11
(HPO:0010547) Muscle flaccidity 466 / 7739
12
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
13
(HPO:0001252) Muscular hypotonia 990 / 7739
14
(HPO:0001324) Muscle weakness 859 / 7739
15
(HPO:0001419) X-linked recessive inheritance 189 / 7739
16
(OMIM) Mental retardation, mild-moderate 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Field et al. (2007) identified 3 families with X-linked mental retardation (XLMR) associated with macrocephaly. The first family included a nephew and an uncle with mild to moderate metal retardation and an aunt with mild cognitive difficulties during ...
Molecular genetics OMIM In the course of systematic screening of the X-chromosome coding sequences in 250 families with nonsyndromic XLMR, Field et al. (2007) identified 2 families with truncating mutations in BRWD3. In both families, the mutation segregated with the phenotype ...