Phenotype #0000223194

Individual ID	00295630
Associated disease	CAMRQ4
Phenotype details	developmental delay, intellectual disability, walking disability, hypotonia, muscle weakness, decreased muscles bulk, failure to thrive; 1y-seizures generalized tonic-clonic; 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; 1y-first words; microcephaly; MRI brain normal; ophthalmoplegia; no nystagmus; optic atrophy; no hearing impairment; no pes planus; feeding difficulties; oligodontia, dental malalignment, delayed totth eruption; no gingival hyperplasia; no 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 10:44:26 +01:00 (CET)
Date last edited	2021-03-03 12:14:14 +01:00 (CET)

Global Variome shared LOVD