MCID: NRD041
MIFTS: 15

Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with or Without Hyperkinetic...

MalaCards integrated aliases for Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive:

Name: Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive 57 75 29 6
Ndhmsr 57 75
Neurodevelopmental Disorder with Hyperkinetic Movements Without Seizures, Autosomal Recessive 6

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset in early infancy
one family (family a) had lethal early infantile epileptic encephalopathy associated with a homozygous truncating mutation
three unrelated consanguineous families have been reported (last curated december 2017)


Classifications:



External Ids:

OMIM 57 617820
MedGen 42 CN737161
MeSH 44 D008607

Summaries for Neurodevelopmental Disorder with or Without Hyperkinetic...

OMIM : 57 NDHMSR is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development, severe intellectual disability, and involuntary movements, including stereotypic movements, spasticity, and dystonia. Affected individuals are are usually unable to walk independently and have poor or absent speech. Some patients have intractable seizures (summary by Lemke et al., 2016). (617820)

MalaCards based summary : Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive, is also known as ndhmsr. An important gene associated with Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive is GRIN1 (Glutamate Ionotropic Receptor NMDA Type Subunit 1). Affiliated tissues include eye.

UniProtKB/Swiss-Prot : 75 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive: An autosomal recessive neurodevelopmental disorder characterized by severe mental retardation and psychomotor developmental delay, involuntary and stereotypic movements, spasticity, and inability to walk without support. Intractable seizures manifest in some patients.

Related Diseases for Neurodevelopmental Disorder with or Without Hyperkinetic...

Symptoms & Phenotypes for Neurodevelopmental Disorder with or Without Hyperkinetic...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
frontal bossing

Neurologic Behavioral Psychiatric Manifestations:
self-injurious behavior
autistic features
stereotypic movements

Muscle Soft Tissue:
hypotonia

Neurologic Central Nervous System:
spasticity
intellectual disability, severe
dystonia
involuntary movements
delayed psychomotor development, severe
more
Head And Neck Eyes:
strabismus
poor eye contact

Head And Neck Face:
midface hypoplasia, mild


Clinical features from OMIM:

617820

Drugs & Therapeutics for Neurodevelopmental Disorder with or Without Hyperkinetic...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive

Genetic Tests for Neurodevelopmental Disorder with or Without Hyperkinetic...

Genetic tests related to Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive 29 GRIN1

Anatomical Context for Neurodevelopmental Disorder with or Without Hyperkinetic...

MalaCards organs/tissues related to Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive:

41
Eye

Publications for Neurodevelopmental Disorder with or Without Hyperkinetic...

Variations for Neurodevelopmental Disorder with or Without Hyperkinetic...

ClinVar genetic disease variations for Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GRIN1 NM_007327.3(GRIN1): c.679G> C (p.Asp227His) single nucleotide variant Likely pathogenic rs869312865 GRCh37 Chromosome 9, 140051128: 140051128
2 GRIN1 NM_007327.3(GRIN1): c.679G> C (p.Asp227His) single nucleotide variant Likely pathogenic rs869312865 GRCh38 Chromosome 9, 137156676: 137156676
3 GRIN1 NM_007327.3(GRIN1): c.649C> T (p.Arg217Trp) single nucleotide variant Pathogenic rs200777850 GRCh38 Chromosome 9, 137149087: 137149087
4 GRIN1 NM_007327.3(GRIN1): c.649C> T (p.Arg217Trp) single nucleotide variant Pathogenic rs200777850 GRCh37 Chromosome 9, 140043539: 140043539
5 GRIN1 NM_007327.3(GRIN1): c.1666C> T (p.Gln556Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 140056657: 140056657
6 GRIN1 NM_007327.3(GRIN1): c.1666C> T (p.Gln556Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 137162205: 137162205

Expression for Neurodevelopmental Disorder with or Without Hyperkinetic...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive.

Pathways for Neurodevelopmental Disorder with or Without Hyperkinetic...

GO Terms for Neurodevelopmental Disorder with or Without Hyperkinetic...

Sources for Neurodevelopmental Disorder with or Without Hyperkinetic...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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