Phenotype #0000351322

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00465876
Associated disease	NEDMIBA
Diagnosis/Initial	Neurodevelopmental disorder with microcephaly
Diagnosis/Definite	Neurodevelopmental disorder with microcephaly
Phenotype details	global developmental delay, microcephaly, alobar holoprosencephaly, brachycephaly, short stature, reduced brain volume, simplified gyral pattern, hypoplastic corpus callosum, microphthalmia, optic atrophy, facial dysmorphism
Inheritance	Familial, autosomal recessive
Age/Examination	02y04m (2 years, 4 months)
Age/Diagnosis	-
Age/Onset	birth
Phenotype/Onset	-
Owner name	Loisa Dana Bonde
Database submission license	No license selected
Created by	Loisa Dana Bonde
Date created	2025-06-18 10:22:45 +02:00 (CEST)
Date last edited	2025-06-23 11:19:09 +02:00 (CEST)