Phenotype #0000337331

Individual ID	00443475
Associated disease	?
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	-
Phenotype details	delayed motor milestones; severe neurodevelopmental impairment; tetraparesis; epilepsy; axial hypotonia; normal deep tendon reflexes; myoclonus; tremor hands/jaws; abnormal hand movements; abnormal plantar reflexes; autistic behaviour; MRI brain hypomyelination, cortical gyral semplification, cerebellar atrophy, hypoplasia/agenesis corpus callosum; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, no palpebral ptosis, no full cheeks, thick protruding lips, no macroglossia, thin sparse brittle hair, sparse eyebrows, sparse eyelashes, yellowish skin, keratosis pilaris; normal vision; no strabismus; scoliosis or kyphoscoliosis; no pectus carinatum; limited extension elbow/knees; tapered fingers; pes planus; dysphagia
Inheritance	Familial, autosomal recessive
Age/Examination	11y (11 years)
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

Global Variome shared LOVD