MENTAL RETARDATION, AUTOSOMAL DOMINANT 9

General Information (adopted from Orphanet):

Synonyms, Signs: MRD9
Number of Symptoms 19
OrphanetNr:
OMIM Id: 614255
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:0100704) Cortical visual impairment rare [HPO:skoehler] 28 / 7739
3
 (HPO:0000648) Optic atrophy rare [HPO:skoehler] 238 / 7739
4
 (HPO:0000639) Nystagmus rare [HPO:skoehler] 555 / 7739
5
 (HPO:0003487) Babinski sign 179 / 7739
6
 (HPO:0002540) Inability to walk rare [HPO:skoehler] 19 / 7739
7
 (HPO:0001347) Hyperreflexia 363 / 7739
8
 (HPO:0001257) Spasticity 1/1 [HPO:probinson] 251 / 7739
9
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
10
 (HPO:0001249) Intellectual disability 1/1 [HPO:probinson] 1089 / 7739
11
 (HPO:0001263) Global developmental delay 853 / 7739
12
 (HPO:0003477) Peripheral axonal neuropathy rare [HPO:skoehler] 62 / 7739
13
 (HPO:0001762) Talipes equinovarus rare [HPO:skoehler] 309 / 7739
14
 (HPO:0001371) Flexion contracture rare [HPO:skoehler] 220 / 7739
15
 (HPO:0008936) Muscular hypotonia of the trunk 1/1 [HPO:probinson] 77 / 7739
16
 (HPO:0006855) Cerebellar vermis atrophy 1/1 [HPO:probinson] 8 / 7739
17
 (HPO:0002059) Cerebral atrophy rare [HPO:skoehler] 171 / 7739
18
 (HPO:0001272) Cerebellar atrophy 197 / 7739
19
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hamdan et al. (2011) hypothesized that de novo mutations in synaptic genes explain an important fraction of sporadic nonsyndromic intellectual disability (NSID) cases. They sequenced 197 genes encoding glutamate receptors and a large subset of their known interacting ...
Molecular genetics OMIM In a patient with nonsyndromic intellectual disability, Hamdan et al. (2011) identified a de novo C-to-T transition at nucleotide 296 of the KIF1A gene resulting in a threonine-to-methionine substitution at codon 99 (T99M; 601255.0004). The mutation was not ...