Phenotype #0000337332

Individual ID	00443476
Associated disease	?
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	-
Phenotype details	delayed motor milestones; profpound neurodevelopmental impairment; tetraparesis; no epilepsy; increased deep tendon reflexes; no myoclonus; no tremor hands/jaws; abnormal hand movements; abnormal plantar reflexes; microcephaly, no coarse face, no high forehead, high temporal/frontal hairline, bitemporal narrowing, no palpebral ptosis, no full cheeks, thick protruding lips, macroglossia, thin sparse brittle hair, sparse eyebrows, no sparse eyelashes, no yellowish skin, no keratosis pilaris; no strabismus; no scoliosis or kyphoscoliosis; no pectus carinatum; limited extension elbow/knees; no tapered fingers; no pes planus; pes cavus; dysphagia
Inheritance	Familial, autosomal recessive
Age/Examination	6y (6 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