MENTAL RETARDATION, X-LINKED 21

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION, X-LINKED 34
MRX21
MRX34
Number of Symptoms 23
OrphanetNr:
OMIM Id: 300143
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:0010804) Tented upper lip vermilion 47 / 7739
2
(HPO:0000582) Upslanted palpebral fissure 185 / 7739
3
(HPO:0000664) Synophrys 112 / 7739
4
(HPO:0000316) Hypertelorism 644 / 7739
5
(HPO:0000678) Dental crowding 65 / 7739
6
(HPO:0003196) Short nose 264 / 7739
7
(HPO:0000303) Mandibular prognathia 179 / 7739
8
(HPO:0000194) Open mouth 70 / 7739
9
(HPO:0009909) Uplifted earlobe 4 / 7739
10
(HPO:0002342) Intellectual disability, moderate 37 / 7739
11
(HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
12
(HPO:0000752) Hyperactivity 140 / 7739
13
(HPO:0000717) Autism 108 / 7739
14
(HPO:0001327) Photomyoclonic seizures 125 / 7739
15
(HPO:0001382) Joint hypermobility 231 / 7739
16
(OMIM) Crowded dentition 2 / 7739
17
(OMIM) Thickened alae nasi and columella 1 / 7739
18
(OMIM) Mild dysmorphic features 1 / 7739
19
(HPO:0001419) X-linked recessive inheritance 189 / 7739
20
(OMIM) Upturned lobes 1 / 7739
21
(OMIM) Hypotonic midface 1 / 7739
22
(OMIM) [DEL]Autistic features 43 / 7739
23
(OMIM) Thick ears 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) This form of nonsyndromic X-linked mental retardation is characterized by a spectrum of cognitive neurologic impairments or disabilities ranging from moderate mental retardation to high-functioning autism. Males are typically severely affected, but some carrier females may manifest milder ...
Clinical Description OMIM Kozak et al. (1993) reported a 3-generation Italian family in which 4 male patients had moderate mental retardation without any specific or consistent phenotypic abnormalities. One obligate female carrier had mild retardation and another 2 had normal intelligence, ...
Molecular genetics OMIM In a small family with X-linked mental retardation, Carrie et al. (1999) identified a mutation in the IL1RAPL1 gene (300206.0001). The results suggested that signal transduction through multifunctional proteins of the immune system may be critical for the ...