Phenotype #0000337325

Individual ID 00443462
Associated disease ?
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite -
Phenotype details delayed motor milestones; profpound neurodevelopmental impairment; tetraparesis; ?; tremor hands/jaws; abnormal hand movements; MRI brain hypoplasia/agenesis corpus callosum; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, palpebral ptosis, full cheeks, thick protruding lips, macroglossia, thin sparse brittle hair, sparse eyebrows, sparse eyelashes, yellowish skin; abnormal vision; ?; tapered fingers; dysphagia
Inheritance Familial, autosomal recessive
Age/Examination 9y (9 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

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