Intellectual deficit, X-linked, Nascimento type

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION, X-LINKED, SYNDROMIC 30
MRXS30
MRXSN
X-linked intellectual deficit - nail dystrophy - seizures
Number of Symptoms 47
OrphanetNr: 163956
OMIM Id: 300860
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000054) Micropenis 257 / 7739
2
 (HPO:0002714) Downturned corners of mouth 98 / 7739
3
 (HPO:0000475) Broad neck 12 / 7739
4
 (HPO:0011800) Midface retrusion 221 / 7739
5
 (HPO:0007874) Almond-shaped palpebral fissure 4 / 7739
6
 (HPO:0000336) Prominent supraorbital ridges 45 / 7739
7
 (HPO:0000283) Broad face 12 / 7739
8
 (HPO:0000490) Deeply set eye 131 / 7739
9
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
10
 (HPO:0000154) Wide mouth 137 / 7739
11
 (HPO:0000256) Macrocephaly 298 / 7739
12
 (HPO:0000233) Thin vermilion border 124 / 7739
13
 (HPO:0000664) Synophrys 112 / 7739
14
 (HPO:0000470) Short neck 345 / 7739
15
 (HPO:0005280) Depressed nasal bridge 381 / 7739
16
 (HPO:0002162) Low posterior hairline 88 / 7739
17
 (HPO:0000272) Malar flattening 277 / 7739
18
 (HPO:0002465) Poor speech 31 / 7739
19
 (HPO:0010529) Echolalia 20 / 7739
20
 (HPO:0001249) Intellectual disability 1089 / 7739
21
 (HPO:0001250) Seizures 1245 / 7739
22
 (HPO:0000718) Aggressive behavior 109 / 7739
23
 (HPO:0006610) Wide intermamillary distance 46 / 7739
24
 (HPO:0001763) Pes planus 176 / 7739
25
 (HPO:0010055) Broad hallux 56 / 7739
26
 (HPO:0001773) Short foot 86 / 7739
27
 (HPO:0004324) Increased body weight 4 / 7739
28
 (HPO:0011356) Regional abnormality of skin 1 / 7739
29
 (HPO:0008404) Nail dystrophy 89 / 7739
30
 (HPO:0010721) Abnormal hair whorl 3 / 7739
31
 (HPO:0005590) Spotty hypopigmentation rare [HPO:skoehler] 10 / 7739
32
 (HPO:0002230) Generalized hirsutism 32 / 7739
33
 (HPO:0000958) Dry skin 152 / 7739
34
 (HPO:0001007) Hirsutism 91 / 7739
35
 (HPO:0002164) Nail dysplasia 82 / 7739
36
 (OMIM) Broad first toe 3 / 7739
37
 (OMIM) Hair whorls 1 / 7739
38
 (HPO:0007103) Hypointensity of cerebral white matter on MRI 3 / 7739
39
 (OMIM) Myxedematous appearance 1 / 7739
40
 (OMIM) White matter hypodensities on brain imaging 1 / 7739
41
 (OMIM) Lack of speech or poor speech 2 / 7739
42
 (OMIM) Almond-shaped eyes 12 / 7739
43
 (OMIM) Wide face 2 / 7739
44
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
45
 (OMIM) Short broad neck 3 / 7739
46
 (MedDRA:10047899) Weight increased 1 / 7739
47
 (OMIM) Hypopigmented spots (less common) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The Nascimento type of X-linked syndromic mental retardation is characterized by dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy. Female ...
Clinical Description OMIM Nascimento et al. (2006) reported a family with 3 mentally retarded males in 2 generations, related through their clinically normal mothers. The patients were 46, 19, and 5 years of age, respectively. Dysmorphic features included synophrys, upslanted palpebral ...
Molecular genetics OMIM In 3 males with X-linked syndromic mental retardation, Nascimento et al. (2006) identified a nonsense mutation in the UBE2A gene (Q128X; 312180.0001). The mutation was found after screening of candidate genes within a shared region on chromosome Xq23-q25 ...