MENTAL RETARDATION, X-LINKED 30

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION, X-LINKED 47
MRX47
MRX30
Number of Symptoms 32
OrphanetNr:
OMIM Id: 300558
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:0000463) Anteverted nares 305 / 7739
2
(HPO:0000252) Microcephaly 832 / 7739
3
(HPO:0000219) Thin upper lip vermilion 112 / 7739
4
(HPO:0003196) Short nose 264 / 7739
5
(HPO:0000194) Open mouth 70 / 7739
6
(HPO:0002307) Drooling 43 / 7739
7
(HPO:0012368) Flat face 106 / 7739
8
(HPO:0000218) High palate 356 / 7739
9
(HPO:0000400) Macrotia 108 / 7739
10
(HPO:0001249) Intellectual disability 1089 / 7739
11
(HPO:0001250) Seizures 1245 / 7739
12
(HPO:0000709) Psychosis 61 / 7739
13
(HPO:0000718) Aggressive behavior 109 / 7739
14
(HPO:0000750) Delayed speech and language development 197 / 7739
15
(HPO:0000736) Short attention span 16 / 7739
16
(HPO:0000713) Agitation 18 / 7739
17
(HPO:0000752) Hyperactivity 140 / 7739
18
(HPO:0000739) Anxiety 67 / 7739
19
(HPO:0000711) Restlessness 18 / 7739
20
(HPO:0002194) Delayed gross motor development 37 / 7739
21
(OMIM) Mental retardation, mild to severe 14 / 7739
22
(OMIM) Impaired visuospatial perception 1 / 7739
23
(HPO:0001419) X-linked recessive inheritance 189 / 7739
24
(HPO:0003828) Variable expressivity 130 / 7739
25
(OMIM) Schizophrenia-like symptoms (uncommon) 1 / 7739
26
(OMIM) Impaired attentional and executive function 1 / 7739
27
(OMIM) Inarticulate speech Delayed gross motor skills 1 / 7739
28
(OMIM) Low forehead 2 / 7739
29
(OMIM) Posterior slow-wave activity on EEG 1 / 7739
30
(OMIM) High-bridged nose 1 / 7739
31
(OMIM) Mental retardation, borderline-mild in carrier females 1 / 7739
32
(OMIM) Relatively long ears 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Des Portes et al. (1997) reported a French family in which 6 males in 2 generations had nonsyndromic X-linked mental retardation. All affected males had moderate to severe mental retardation without seizures, statural growth deficiencies, or other physical ...
Molecular genetics OMIM Allen et al. (1998) identified a mutation in the PAK3 gene (300142.0001) in affected males of the Australian family with MRX30 reported by Donnelly et al. (1996).

In affected members of the French family with MRX47 ...