MENTAL RETARDATION, X-LINKED, SYNDROMIC 14

General Information (adopted from Orphanet):

Synonyms, Signs: MRXS14
Number of Symptoms 20
OrphanetNr:
OMIM Id: 300676
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:0000218) High palate 356 / 7739
2
(HPO:0000426) Prominent nasal bridge 121 / 7739
3
(HPO:0011220) Prominent forehead 137 / 7739
4
(HPO:0000303) Mandibular prognathia 179 / 7739
5
(HPO:0000256) Macrocephaly 298 / 7739
6
(HPO:0000327) Hypoplasia of the maxilla 129 / 7739
7
(HPO:0100807) Long fingers 23 / 7739
8
(HPO:0001833) Long foot 33 / 7739
9
(HPO:0000767) Pectus excavatum 244 / 7739
10
(HPO:0000774) Narrow chest 167 / 7739
11
(HPO:0002808) Kyphosis 289 / 7739
12
(HPO:0002650) Scoliosis 705 / 7739
13
(HPO:0000768) Pectus carinatum 136 / 7739
14
(HPO:0001611) Nasal speech 48 / 7739
15
(OMIM) Long, thin face 3 / 7739
16
(OMIM) Tall, thin habitus 1 / 7739
17
(OMIM) [DEL]Autistic features 43 / 7739
18
(OMIM) Poor musculature 1 / 7739
19
(OMIM) Mental retardation, mild to severe 14 / 7739
20
(OMIM) Long hands 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Tarpey et al. (2007) reported 4 unrelated families with X-linked mental retardation. Although the phenotype was variable, common features included mild to severe mental retardation, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal ...
Molecular genetics OMIM In affected members of 4 unrelated families with X-linked syndromic mental retardation, Tarpey et al. (2007) identified hemizygous mutations in the UPF3B gene (300298.0001-300298.0004).

Tarpey et al. (2009) sequenced the coding exons of the X chromosome ...