MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15

General Information (adopted from Orphanet):

Synonyms, Signs: MRT15
Number of Symptoms 23
OrphanetNr:
OMIM Id: 614202
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:0000268) Dolichocephaly 144 / 7739
2
(HPO:0000322) Short philtrum 130 / 7739
3
(HPO:0000219) Thin upper lip vermilion 112 / 7739
4
(HPO:0000276) Long face 109 / 7739
5
(HPO:0000448) Prominent nose 56 / 7739
6
(HPO:0000307) Pointed chin 45 / 7739
7
(HPO:0000494) Downslanted palpebral fissures 328 / 7739
8
(HPO:0004523) Long eyebrows 4 / 7739
9
(HPO:0000431) Wide nasal bridge 290 / 7739
10
(HPO:0011229) Broad eyebrow 9 / 7739
11
(HPO:0000272) Malar flattening 277 / 7739
12
(HPO:0000316) Hypertelorism 644 / 7739
13
(HPO:0000319) Smooth philtrum 72 / 7739
14
(HPO:0001263) Global developmental delay 853 / 7739
15
(HPO:0001327) Photomyoclonic seizures 125 / 7739
16
(HPO:0002342) Intellectual disability, moderate 37 / 7739
17
(HPO:0000718) Aggressive behavior 109 / 7739
18
(HPO:0001250) Seizures 1245 / 7739
19
(HPO:0001513) Obesity rare [HPO:skoehler] 172 / 7739
20
(OMIM) Dolichocephaly, mild 1 / 7739
21
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
22
(OMIM) Mental retardation, moderate to profound 2 / 7739
23
(OMIM) Triangular chin 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Rafiq et al. (2010) reported 3 consanguineous Pakistani families with nonsyndromic mental retardation. The patients were severely mental retarded, all but 1 with an IQ less than 40 and all with delayed speech. Two of 3 sibs in ...
Molecular genetics OMIM In affected members of 5 families with autosomal recessive mental retardation-15, Rafiq et al. (2011) identified 3 different homozygous mutations in the MAN1B1 gene (604346.0001-604346.0003).