NEDHAHM
MCID: NRD090
MIFTS: 11

Neurodevelopmental Disorder with Hypotonia and Autistic Features with or Without Hyperkinetic Movements (NEDHAHM)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Hypotonia and Autistic Features...

MalaCards integrated aliases for Neurodevelopmental Disorder with Hypotonia and Autistic Features with or Without Hyperkinetic Movements:

Name: Neurodevelopmental Disorder with Hypotonia and Autistic Features with or Without Hyperkinetic Movements 56 6
Nedhahm 56

Classifications:



External Ids:

OMIM 56 618760

Summaries for Neurodevelopmental Disorder with Hypotonia and Autistic Features...

OMIM : 56 Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements (NEDHAHM) is characterized by axial hypotonia apparent from birth, global developmental delay with impaired intellectual development and poor or absent language acquisition, and behavioral abnormalities, including autistic features, poor social interaction, and hang-wringing. Most patients have childhood-onset seizures that are usually responsive to medication, and a subset of patients develop cortical visual impairment and involuntary hyperkinetic movements, including chorea and dystonia. Some of the features are reminiscent of Rett syndrome (RTT; 312750) (summary by Salpietro et al., 2019). (618760)

MalaCards based summary : Neurodevelopmental Disorder with Hypotonia and Autistic Features with or Without Hyperkinetic Movements, is also known as nedhahm. An important gene associated with Neurodevelopmental Disorder with Hypotonia and Autistic Features with or Without Hyperkinetic Movements is VAMP2 (Vesicle Associated Membrane Protein 2).

Related Diseases for Neurodevelopmental Disorder with Hypotonia and Autistic Features...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Hypotonia and Autistic Features...

Clinical features from OMIM:

618760

Drugs & Therapeutics for Neurodevelopmental Disorder with Hypotonia and Autistic Features...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Hypotonia and Autistic Features with or Without Hyperkinetic Movements

Genetic Tests for Neurodevelopmental Disorder with Hypotonia and Autistic Features...

Anatomical Context for Neurodevelopmental Disorder with Hypotonia and Autistic Features...

Publications for Neurodevelopmental Disorder with Hypotonia and Autistic Features...

Articles related to Neurodevelopmental Disorder with Hypotonia and Autistic Features with or Without Hyperkinetic Movements:

# Title Authors PMID Year
1
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment. 56 6
30929742 2019
2
Synaptobrevin is essential for fast synaptic-vesicle endocytosis. 56
15475946 2004

Variations for Neurodevelopmental Disorder with Hypotonia and Autistic Features...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Hypotonia and Autistic Features with or Without Hyperkinetic Movements:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 VAMP2 NM_014232.3(VAMP2):c.223T>C (p.Ser75Pro)SNV Pathogenic 810675 17:8064985-8064985 17:8161667-8161667
2 VAMP2 NM_014232.3(VAMP2):c.233A>C (p.Glu78Ala)SNV Pathogenic 810676 17:8064975-8064975 17:8161657-8161657
3 VAMP2 NM_014232.3(VAMP2):c.230T>C (p.Phe77Ser)SNV Pathogenic 810677 17:8064978-8064978 17:8161660-8161660
4 VAMP2 NM_014232.3:c.128_130deldeletion Pathogenic 810678
5 VAMP2 NM_014232.3:c.135_137delshort repeat Pathogenic 810679 17:8065071-8065073 17:8161753-8161755

Expression for Neurodevelopmental Disorder with Hypotonia and Autistic Features...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Hypotonia and Autistic Features with or Without Hyperkinetic Movements.

Pathways for Neurodevelopmental Disorder with Hypotonia and Autistic Features...

GO Terms for Neurodevelopmental Disorder with Hypotonia and Autistic Features...

Sources for Neurodevelopmental Disorder with Hypotonia and Autistic Features...

3 CDC
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10 dbSNP
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17 EFO
18 ExPASy
19 FMA
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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