Phenotype #0000223195

Individual ID	00295631
Associated disease	CAMRQ4
Phenotype details	developmental delay, intellectual disability, walking disability, hypotonia, muscle weakness, decreased muscles bulk, failure to thrive; no seizures; choreathetosis (especially upper limbs); no tremor; head titubation; decreased lower limbs deep tendon reflexes, decreased upper limbs deep tendon reflexes, Babinski reflex; not ambulant (bed-ridden); dystonia; facial dyskinesia; 5y6m-first words; no microcephaly, below-average head circumference; MRI brain mild frontotemporal cortical atrophy, deepening of bilateral sylvian fissure, abnormal opercularization, thinning of the corpus callosum, white matter volume loss; ophthalmoplegia; no nystagmus; optic atrophy; no hearing impairment; mild pes planus; feeding difficulties; dental malalignment, early dental decay, delayed tooth eruption; gingival hyperplasia; joint stiffness
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Ehsan Jafarinia
Database submission license	No license selected
Created by	Ehsan Jafarinia
Date created	2020-03-21 10:55:02 +01:00 (CET)
Date last edited	2021-03-03 12:17:43 +01:00 (CET)

Global Variome shared LOVD