Phenotype #0000223196

Individual ID	00295632
Associated disease	CAMRQ4
Phenotype details	developmental delay, intellectual disability, walking disability, hypotonia, muscle weakness, decreased muscles bulk, failure to thrive; generalized tonic-clonic seizures; choreathetosis (especially upper limbs); no tremor; head titubation; normal lower limbs deep tendon reflexes, normal upper limbs deep tendon reflexes, Babinski reflex; not ambulant (bed-ridden); dystonia; facial dyskinesia; 10m-first words; no microcephaly, below-average head circumference; MRI brain normal; ophthalmoplegia; no nystagmus; optic atrophy; no hearing impairment; pes planus; feeding difficulties; dental malalignment, early dental decay, delayed tooth eruption; mild 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 11:00:53 +01:00 (CET)
Date last edited	2021-03-03 12:22:05 +01:00 (CET)

Global Variome shared LOVD