Phenotype #0000337327

Individual ID	00443468
Associated disease	?
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	-
Phenotype details	delayed motor milestones; tetraparesis; epilepsy; axial hypotonia; increased deep tendon reflexes; MRI brain hypomyelination, cortical gyral semplification; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, palpebral ptosis, full cheeks, thick protruding lips, no macroglossia, thin sparse brittle hair, sparse eyebrows, sparse eyelashes, no yellowish skin; abnormal vision; scoliosis or kyphoscoliosis; pectus carinatum; limited extension elbow/knees; tapered fingers; pes planus;
Inheritance	Familial, autosomal recessive
Age/Examination	5y (5 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