Intellectual deficit, X-linked, Snyder type

General Information (adopted from Orphanet):

Synonyms, Signs: SNYDER-ROBINSON MENTAL RETARDATION SYNDROME
MRXSSR
SRS
Snyder-Robinson syndrome
Number of Symptoms 48
OrphanetNr: 3063
OMIM Id: 309583
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 11 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Childhood
Adolescent
[Orphanet]

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:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0002705) High, narrow palate 308 / 7739
3
 (HPO:0000465) Webbed neck 81 / 7739
4
 (HPO:0000324) Facial asymmetry 57 / 7739
5
 (HPO:0000316) Hypertelorism 644 / 7739
6
 (HPO:0000193) Bifid uvula 66 / 7739
7
 (HPO:0000322) Short philtrum 130 / 7739
8
 (HPO:0000175) Cleft palate 349 / 7739
9
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
10
 (HPO:0000678) Dental crowding 65 / 7739
11
 (HPO:0000303) Mandibular prognathia 179 / 7739
12
 (HPO:0011003) Severe Myopia 31 / 7739
13
 (HPO:0000377) Abnormality of the pinna 111 / 7739
14
 (HPO:0001249) Intellectual disability 1089 / 7739
15
 (HPO:0002136) Broad-based gait 30 / 7739
16
 (HPO:0001250) Seizures 1245 / 7739
17
 (HPO:0001260) Dysarthria 329 / 7739
18
 (HPO:0006610) Wide intermamillary distance 46 / 7739
19
 (HPO:0011302) Long palm 70 / 7739
20
 (HPO:0002751) Kyphoscoliosis 131 / 7739
21
 (HPO:0000939) Osteoporosis 129 / 7739
22
 (HPO:0000767) Pectus excavatum 244 / 7739
23
 (HPO:0100807) Long fingers 23 / 7739
24
 (HPO:0001187) Hyperextensibility of the finger joints 12 / 7739
25
 (HPO:0004283) Narrow palm 8 / 7739
26
 (HPO:0001762) Talipes equinovarus 309 / 7739
27
 (HPO:0000768) Pectus carinatum 136 / 7739
28
 (HPO:0001847) Long hallux 13 / 7739
29
 (HPO:0002757) Recurrent fractures 47 / 7739
30
 (HPO:0004322) Short stature 1232 / 7739
31
 (HPO:0000098) Tall stature 74 / 7739
32
 (HPO:0001611) Nasal speech 48 / 7739
33
 (HPO:0010547) Muscle flaccidity 466 / 7739
34
 (HPO:0001252) Muscular hypotonia 990 / 7739
35
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
36
 (HPO:0001324) Muscle weakness 859 / 7739
37
 (HPO:0003199) Decreased muscle mass 27 / 7739
38
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
39
 (HPO:0003812) Phenotypic variability 129 / 7739
40
 (OMIM) Small upper lip 1 / 7739
41
 (OMIM) Slanted palpebral fissures 1 / 7739
42
 (OMIM) Long, hyperextensible fingers 2 / 7739
43
 (OMIM) Long thin hands (rare) 3 / 7739
44
 (OMIM) Short, webbed neck 3 / 7739
45
 (OMIM) Asymmetric dysplastic ears 1 / 7739
46
 (OMIM) Thin body build 1 / 7739
47
 (OMIM) Overcrowded teeth 3 / 7739
48
 (OMIM) Hypertelorism, mild 11 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Snyder-Robinson mental retardation syndrome is an X-linked intellectual disability syndrome with characteristic features including facial asymmetry, marfanoid habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, diminished muscle mass, osteoporosis, kyphoscoliosis, long great toes, ...
Clinical Description OMIM Snyder and Robinson (1969) reported a family in which affected males had a form of nonspecific X-linked mental retardation with hypotonia and unsteady gait. Eleven males in 4 generations were affected. Arena et al. (1992, 1996) reevaluated the ...
Molecular genetics OMIM In affected members of the family originally reported by Snyder and Robinson (1969), Cason et al. (2003) identified a mutation in the SMS gene (300105.0001).

In 2 Mexican brothers with Snyder-Robinson syndrome, Becerra-Solano et al. (2009) ...