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NDHMSR
MCID: NRD041
MIFTS: 19
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Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive (NDHMSR)
Categories:
Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases
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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
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) HPO:32
neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive:
Onset and clinical course phenotypic variability Classifications:
MalaCards categories:
Global: Genetic diseases Anatomical: Neuronal diseases Muscle diseases Mental diseases |
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OMIM
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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, and related phenotypes are seizures and spasticity 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. |
Diseases in the Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant family:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617820Human phenotypes related to Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive:32 (show all 14)
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MalaCards organs/tissues related to Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive:41
Eye
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Genes related to Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive:75
ClinVar genetic disease variations for Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive:6
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Search
GEO
for disease gene expression data for Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive.
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