Phenotype #0000337333

Individual ID	00443477
Associated disease	?
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	-
Phenotype details	delayed motor milestones; severe neurodevelopmental impairment; tetraparesis; no epilepsy; axial hypotonia; increased deep tendon reflexes; no myoclonus; tremor hands/jaws; abnormal hand movements; MRI brain hypomyelination, cerebellar atrophy, hypoplasia/agenesis corpus callosum; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, no palpebral ptosis, full cheeks, thick protruding lips, macroglossia, thin sparse brittle hair, sparse eyebrows, no sparse eyelashes, no yellowish skin, no keratosis pilaris; abnormal vision; strabismus; no scoliosis or kyphoscoliosis; no pectus carinatum; normal extension elbow/knees; no tapered fingers; pes planus; dysphagia
Inheritance	Familial, autosomal recessive
Age/Examination	1y (1 year)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2024-02-15 19:21:32 +01:00 (CET)
Date last edited	N/A