Phenotype #0000159262

Individual ID	00210697
Associated disease	?
Diagnosis/Initial	developmental delay
Diagnosis/Definite	-
Phenotype details	mild developmental delay; speech delay; behavioral abnormalities; spasticity; no seizures; movement disorder; MRI two discrete hyperintens white matter lesions; no failure to thrive; no sucking/feeding difficulty; no thin/sparse scalp hair; no hypertrichosis; no thick eyebrows; no long eyelashes; no ptosis; no thin upper lip vermilion; no thick lower lip vermilion; normal palate; no nose upturned/anteverted nostrils; no 5th finger or toe/nails abnormaliy; no scoliosis; no ardiovascular abnormality; no inguinal hernia; no undescended testis; hypo pigmented hair, cafe au lait macules
Inheritance	Isolated (sporadic)
Age/Examination	3y (3 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-12-28 14:25:32 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD