MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39

General Information (adopted from Orphanet):

Synonyms, Signs: MRT39
Number of Symptoms 23
OrphanetNr:
OMIM Id: 615541
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:0000448) Prominent nose 56 / 7739
2
(HPO:0000490) Deeply set eye 131 / 7739
3
(HPO:0000252) Microcephaly 832 / 7739
4
(HPO:0000664) Synophrys 112 / 7739
5
(HPO:0000340) Sloping forehead 86 / 7739
6
(HPO:0000486) Strabismus 576 / 7739
7
(HPO:0000400) Macrotia 108 / 7739
8
(HPO:0000733) Stereotypy 58 / 7739
9
(HPO:0001263) Global developmental delay 853 / 7739
10
(HPO:0000718) Aggressive behavior 109 / 7739
11
(HPO:0001249) Intellectual disability 1089 / 7739
12
(HPO:0000752) Hyperactivity 140 / 7739
13
(HPO:0000750) Delayed speech and language development 197 / 7739
14
(HPO:0002751) Kyphoscoliosis 131 / 7739
15
(HPO:0004322) Short stature 1232 / 7739
16
(OMIM) Mental retardation, moderate to severe 20 / 7739
17
(OMIM) Severe speech delay 4 / 7739
18
(OMIM) Malposition of the teeth 1 / 7739
19
(HPO:0003593) Infantile onset 249 / 7739
20
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
21
(OMIM) Decreased circulating naive T cells (1 family) 1 / 7739
22
(OMIM) Anteverted ears 5 / 7739
23
(HPO:0040080) Anteverted ears 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Langouet et al. (2013) reported 3 sibs, born of consanguineous Algerian parents, with mental retardation and behavioral problems. All had a normal neonatal period, but showed delayed psychomotor development and severe speech delay. Examination at ages 30 to ...
Molecular genetics OMIM Najmabadi et al. (2011) performed homozygosity mapping followed by exon enrichment and next-generation sequencing in 136 consanguineous families (over 90% Iranian and less than 10% Turkish or Arabic) segregating syndromic or nonsyndromic forms of autosomal recessive intellectual disability. ...