MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13

General Information (adopted from Orphanet):

Synonyms, Signs: MRT13
Number of Symptoms 30
OrphanetNr:
OMIM Id: 613192
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000322) Short philtrum 130 / 7739
2
(HPO:0000601) Hypotelorism rare [HPO:skoehler] 83 / 7739
3
(HPO:0000204) Cleft upper lip rare [HPO:skoehler] 193 / 7739
4
(HPO:0000664) Synophrys Occasional [HPO:probinson] 112 / 7739
5
(HPO:0100335) Non-midline cleft lip 12 / 7739
6
(HPO:0000316) Hypertelorism Occasional [HPO:probinson] 644 / 7739
7
(HPO:0000319) Smooth philtrum 72 / 7739
8
(HPO:0000470) Short neck 345 / 7739
9
(HPO:0000431) Wide nasal bridge Occasional [HPO:probinson] 290 / 7739
10
(HPO:0005484) Postnatal microcephaly 32 / 7739
11
(HPO:0002714) Downturned corners of mouth Occasional [HPO:probinson] 98 / 7739
12
(HPO:0001327) Photomyoclonic seizures 125 / 7739
13
(HPO:0000752) Hyperactivity 140 / 7739
14
(HPO:0001249) Intellectual disability 1089 / 7739
15
(HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
16
(HPO:0001956) Truncal obesity Occasional [HPO:skoehler] 39 / 7739
17
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
(OMIM) Delayed walking 13 / 7739
19
(HPO:0002500) Abnormality of the cerebral white matter 73 / 7739
20
(OMIM) Decreased volume of the cerebral white matter 1 / 7739
21
(HPO:0003593) Infantile onset 249 / 7739
22
(OMIM) Short, smooth philtrum 1 / 7739
23
(OMIM) Long, thin fingers 2 / 7739
24
(HPO:0002334) Abnormality of the cerebellar vermis 137 / 7739
25
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
26
(OMIM) Hypoplasia of the inferior cerebellar vermis 1 / 7739
27
(OMIM) Language development limited to a few words 1 / 7739
28
(OMIM) Happy disposition 1 / 7739
29
(OMIM) Mental retardation, moderate to severe 20 / 7739
30
(OMIM) Prominent central incisors 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mochida et al. (2009) reported a consanguineous Israeli Arab pedigree in which 3 girls had moderate to severe mental retardation and postnatal microcephaly. One girl, at age 7 years 10 months, had severe cognitive delay and could speak ...
Molecular genetics OMIM By genomewide linkage analysis followed by candidate gene sequencing of an Israeli Arab family with nonsyndromic mental retardation. Mochida et al. (2009) identified a homozygous truncating mutation in the TRAPPC9 gene (R475X; 611966.0001) on chromosome 8q24. Mir et ...