MENTAL RETARDATION, AUTOSOMAL DOMINANT 5

General Information (adopted from Orphanet):

Synonyms, Signs: MRD5
Number of Symptoms 20
OrphanetNr:
OMIM Id: 612621
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly 832 / 7739
2
(HPO:0000473) Torticollis rare [HPO:skoehler] 42 / 7739
3
(HPO:0002544) Retrocollis 5 / 7739
4
(HPO:0001249) Intellectual disability 1089 / 7739
5
(HPO:0001270) Motor delay 322 / 7739
6
(HPO:0002463) Language impairment 15 / 7739
7
(HPO:0000729) Autistic behavior 27 / 7739
8
(HPO:0001250) Seizures 2/3 [HPO:probinson] 1245 / 7739
9
(HPO:0002353) EEG abnormality 188 / 7739
10
(HPO:0001263) Global developmental delay 853 / 7739
11
(HPO:0002376) Developmental regression 74 / 7739
12
(HPO:0200134) Epileptic encephalopathy rare [HPO:skoehler] 42 / 7739
13
(HPO:0001324) Muscle weakness 859 / 7739
14
(HPO:0001252) Muscular hypotonia 990 / 7739
15
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
16
(HPO:0010547) Muscle flaccidity 466 / 7739
17
(OMIM) Normal brain MRI or CT scan 2 / 7739
18
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
19
(OMIM) Behavioral abnormalities 3 / 7739
20
(OMIM) Mental retardation, mild to severe 14 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) MRD5 is characterized by moderate to severe intellectual disability with delayed psychomotor development apparent in the first years of life. Some patients develop variable types of seizures, some have autism or autism spectrum disorder (see 209850), and some ...
Clinical Description OMIM In 3 of 94 patients with nonsyndromic mental retardation, Hamdan et al. (2009) identified 3 different de novo heterozygous truncating mutations in the SYNGAP1 gene (603384.0001-603384.0003). All patients showed global developmental delay with delayed motor development, hypotonia, moderate ...
Molecular genetics OMIM In 3 of 94 patients with nonsyndromic mental retardation, Hamdan et al. (2009) identified 3 different de novo heterozygous truncating mutations in the SYNGAP1 gene (603384.0001-603384.0003).

In 3 of 60 patients with nonsyndromic intellectual disability, including ...