NEDHYMS
MCID: NRD096
MIFTS: 12

Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures (NEDHYMS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and...

MalaCards integrated aliases for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures:

Name: Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures 56 6
Nedhyms 56

Classifications:



External Ids:

OMIM 56 618862

Summaries for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and...

OMIM : 56 Neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS) is an autosomal recessive disorder characterized by global developmental delay with axial hypotonia, inability to sit or walk, and severely impaired intellectual development with absent language. Most patients develop early-onset intractable seizures that prevent normal development. Additional features include feeding difficulties with poor overall growth and microcephaly. Some patients may have spastic quadriplegia, poor eye contact due to cortical blindness, variable dysmorphic features, and nonspecific abnormalities on brain imaging (summary by Tan et al., 2020). (618862)

MalaCards based summary : Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures, is also known as nedhyms. An important gene associated with Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures is ADARB1 (Adenosine Deaminase RNA Specific B1). Affiliated tissues include eye and brain.

Related Diseases for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and...

Clinical features from OMIM:

618862

Drugs & Therapeutics for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures

Genetic Tests for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and...

Anatomical Context for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures:

40
Eye, Brain

Publications for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and...

Articles related to Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures:

# Title Authors PMID Year
1
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures. 6 56
32220291 2020
2
Point mutation in an AMPA receptor gene rescues lethality in mice deficient in the RNA-editing enzyme ADAR2. 56
10894545 2000

Variations for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADARB1 NM_001112.4(ADARB1):c.1101G>C (p.Lys367Asn)SNV Pathogenic 870449 21:46602522-46602522 21:45182607-45182607
2 ADARB1 NM_001112.4(ADARB1):c.1492A>G (p.Ser498Gly)SNV Pathogenic 870450 21:46604933-46604933 21:45185018-45185018
3 ADARB1 NM_001112.4(ADARB1):c.379A>G (p.Lys127Glu)SNV Pathogenic 870451 21:46595995-46595995 21:45176080-45176080
4 ADARB1 NM_001112.4(ADARB1):c.1688G>A (p.Arg563Gln)SNV Pathogenic 870452 21:46624592-46624592 21:45204677-45204677
5 ADARB1 NM_001112.4(ADARB1):c.2045C>T (p.Ala682Val)SNV Pathogenic 870453 21:46642051-46642051 21:45222136-45222136

Expression for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures.

Pathways for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and...

GO Terms for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and...

Sources for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and...

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72 UMLS via Orphanet
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