Disease #06486 (NEDMIBA (Neurodevelopmental disorder with microcephaly and structural brain anomalies), OMIM:618492)

Official abbreviation NEDMIBA
Name Neurodevelopmental disorder with microcephaly and structural brain anomalies
OMIM ID 618492
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene DYNC1I2
Associated tissues -
Disease features -
Remarks -
Date created 2021-12-10 23:20:41 +01:00 (CET)
Date last edited N/A


Individuals

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00465876 Pat1 Bonde et al., 2025 (submitted) - M yes Egypt - - - - - NEDMIBA global developmental delay, microcephaly, alobar holoprosencephaly, brachycephaly, short stature, reduced brain volume, simplified gyral pattern, hypoplastic corpus callosum, microphthalmia, optic atrophy, facial dysmorphism - NOP58 1 1 Loisa Dana Bonde
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