Phenotype #0000307842

Individual ID	00416076
Associated disease	COQ10D
Phenotype details	see paper; ... (esp. treatment), normal intrauterine growth; birth full term; secondary microcephaly; delayed motor development; delayed cognitive development; regression in development; 4m-ataxia; 2y-dystonia; dysarthria; dysmetria; no tremor; infancy spasticity; tetraparesis/paraparesis; truncal hypotonia; 2y-seizures, focal, tonic ; repetitive status epilepticus; 2y-repetitive stroke like episodes; encephalopathy; nocturnal apneic episodes; feeding difficulties; hyperopia, strabismus; no cardiomyopathy; large ears with overfolded helix, full eyebrows, depressed nasal root, short nose with bulbous tip, long philtrum, deep-set eyes, impression of hypertelorism, singular palmar crease bilateral; kyphoscoliosis; MRI brain 2y-6.25y cerebellar atrophy (visual inspection); cerebellum not reduced in volume; no cerebellar hypoplasia; brainstem not reduced in volume; pons area not reduced in volume; cerebral atrophy (visual inspection); cerebrum not reduced in volume ; parieto-occipital, gliosis; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; occipito-parietal, parasagittal cortico-subcortical lesions, oliguric formation; arachnoidal cyst; normal myelination; normal myelination
Diagnosis/Initial	neurodevelopmental delay
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	8y (8 years)
Age/Diagnosis	-
Age/Onset	1m15d
Phenotype/Onset	respiratory distress (ALTE), developmental delay, truncal hypotonia
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-08-22 19:29:13 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD

SLC35A3 (solute carrier family 35 (UDP-N-acetylglu...))

Phenotype #0000307842