MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS

General Information (adopted from Orphanet):

Synonyms, Signs: MRAMS
Number of Symptoms 20
OrphanetNr:
OMIM Id: 613671
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0010807) Open bite 6 / 7739
2
(HPO:0000565) Esotropia rare [HPO:skoehler] 58 / 7739
3
(HPO:0000646) Amblyopia rare [HPO:skoehler] 42 / 7739
4
(HPO:0000505) Visual impairment rare [HPO:skoehler] 297 / 7739
5
(HPO:0008499) High-grade hypermetropia 14 / 7739
6
(HPO:0000486) Strabismus 576 / 7739
7
(HPO:0000540) Hypermetropia rare [HPO:skoehler] 99 / 7739
8
(HPO:0000750) Delayed speech and language development 197 / 7739
9
(HPO:0000709) Psychosis rare [HPO:skoehler] 61 / 7739
10
(HPO:0000736) Short attention span 16 / 7739
11
(HPO:0010864) Intellectual disability, severe 120 / 7739
12
(HPO:0001263) Global developmental delay 853 / 7739
13
(HPO:0002465) Poor speech 31 / 7739
14
(MedDRA:10043209) Temporal lobe epilepsy 3 / 7739
15
(OMIM) Anterior maxillary protrusion 1 / 7739
16
(OMIM) Hyperlaxity 1 / 7739
17
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
(OMIM) Vertical maxillary excess 1 / 7739
19
(OMIM) Prominent, crowded teeth 1 / 7739
20
(OMIM) Mild cochlear hearing loss (1 patient) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Basel-Vanagaite et al. (2007) reported 7 sibs, born of consanguineous parents of Israeli Arab descent, with a syndrome characterized by severe mental retardation, anterior maxillary protrusion, and strabismus. Six of 7 sibs had anterior maxillary protrusion with vertical ...
Molecular genetics OMIM By candidate gene sequencing of the 6q21 locus, Birk et al. (2010) identified a homozygous mutation in the SOBP gene (R661X; 613667.0001) in affected members of the family with MRAMS reported by Basel-Vanagaite et al. (2007). Linkage analysis ...