Phenotype #0000278887

Individual ID	00385104
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	PCH13
Phenotype details	see paper; ..., early infancy cholestatic hepatitis, feeding difficulties, failure to thrive; ongoing liver dysfunction requiring treatment with bile acid ursodiol, gastrostomy tube dependence, hypotonia, marked microcephaly, severe global developmental delay, inability to sit, lack of spoken language, electrical status epilepticus in sleep requiring anticonvulsant therapy, cortical vision impairment, strabismus, sleep apnea, gastric volvulus, constipation, asthma, episodic respiratory infections (incl. respiratory syncytial virus), adenoviral pneumonia, pleural effusion; minor dysmorphic features, epicanthal folds, long eyelashes, slightly overfolded ears, upturned nasal tip, thin upper lip, high/narrow anterior palate, full/rounded cheeks, low posterior hairline, single flexion creases fifth fingers, mild clubbing thumbnails/other fingernails, increased hair upper back; 6y-bilateral lower extremity edema; 4m-MRI brain normal, 4y-6y-multiple abnormalities, small cerebellar vermis, small pons/brainstem, enlarged infra-vermian cistern with suspicion Dandy–Walker variant, small hippocampus, thin corpus callosum, abnormal white matter signal cerebral hemispheres
Inheritance	Familial, autosomal recessive
Age/Examination	06y (6 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-10-07 10:36:56 +02:00 (CEST)
Date last edited	N/A