Phenotype #0000352688

Individual ID	00467481
Associated disease	LIS
Diagnosis/Initial	lissencephaly
Diagnosis/Definite	LIS9
Phenotype details	see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thin lissencephaly cortical thickness (4-7 mm), hippocampal dysplasia, thin white matter; thin anterior commissure, thin mild diffuse corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, small base of pons, moderate-severe pontine hypoplasia; cerebellum moderate vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; weight 22 kg (SD−0.4), height 50 cm (SD−2); global developmental delay; hypotonia; spasticity (legs); 1y6m-sit; 7y-walks few steps; no speech; severe intellectual disability; 6m-onset seizures, probable generalized tonic-clonic seizure; mixed dyskinesia; eye movements slow tracking; no feeding abnormality; dysmorphic (hypertelorism, low nasal bridge, epicanthal folds, low-set ears)
Inheritance	Isolated (sporadic)
Age/Examination	7y (7 years)
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-10-13 21:41:36 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD