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NEDMHM
MCID: NRD025
MIFTS: 18
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Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations (NEDMHM)
Categories:
Genetic diseases, Mental diseases, Neuronal diseases
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MalaCards integrated aliases for Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations:Characteristics:OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
variable dysmorphic features two brothers, born of consanguineous turkish parents, have been reported (last curated june 2017) Classifications: |
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Disease Ontology
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12
A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has material basis in homozygous mutation in ARHGEF2 on chromosome 1q22.
MalaCards based summary : Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations, is also known as nedmhm. An important gene associated with Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations is ARHGEF2 (Rho/Rac Guanine Nucleotide Exchange Factor 2). Affiliated tissues include pons and brain, and related phenotypes are high palate and ptosis UniProtKB/Swiss-Prot : 76 Neurodevelopmental disorder with midbrain and hindbrain malformations: An autosomal recessive neurodevelopmental disorder characterized by intellectual disability, speech delay, mild microcephaly, midbrain- hindbrain malformations, and variable dysmorphic features.
Description from OMIM:
617523
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Human phenotypes related to Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations:33 (showing 15, show less)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:617523 |
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MalaCards organs/tissues related to Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations:42
Pons,
Brain
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Articles related to Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations:(showing 1, show less)
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Genes related to Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations (1 elite genes):(showing 1, show less) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations:6 (showing 2, show less)
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Search
GEO
for disease gene expression data for Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations.
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