NEDMIGS
MCID: NRD103
MIFTS: 28
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Neurodevelopmental Disorder with Microcephaly and Gray Sclerae (NEDMIGS)
Categories:
Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae
MalaCards integrated aliases for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae:
Name: Neurodevelopmental Disorder with Microcephaly and Gray Sclerae
57
Characteristics:HPO:31
neurodevelopmental disorder with microcephaly and gray sclerae:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Skin diseases Mental diseases
Orphanet: 58
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OMIM® :
57
Neurodevelopmental disorder with microcephaly and gray sclerae (NEDMIGS) is a severe autosomal recessive disorder characterized by impaired global development with hypotonia often precluding independent ambulation, profoundly impaired intellectual development with poor or absent language, mild microcephaly, and abnormal visual fixation. Patients also have gray sclerae and may have coarse facial features. Most affected individuals have seizures; some may have brain imaging abnormalities (summary by Shaheen et al., 2016 and Froukh et al., 2020). (617051) (Updated 05-Mar-2021)
MalaCards based summary : Neurodevelopmental Disorder with Microcephaly and Gray Sclerae, also known as mental retardation, autosomal recessive 55, is related to dandy-walker syndrome and anencephaly. An important gene associated with Neurodevelopmental Disorder with Microcephaly and Gray Sclerae is PUS3 (Pseudouridine Synthase 3). Affiliated tissues include kidney, and related phenotypes are coarse facial features and global developmental delay UniProtKB/Swiss-Prot : 73 Mental retardation, autosomal recessive 55: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. |
Diseases related to Neurodevelopmental Disorder with Microcephaly and Gray Sclerae via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Neurodevelopmental Disorder with Microcephaly and Gray Sclerae:58 31 (show all 44)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:617051 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Neurodevelopmental Disorder with Microcephaly and Gray Sclerae:40
Kidney
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Articles related to Neurodevelopmental Disorder with Microcephaly and Gray Sclerae:
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ClinVar genetic disease variations for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae:6
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Search
GEO
for disease gene expression data for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae.
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