Phenotype #0000159264

Individual ID 00210699
Associated disease ?
Diagnosis/Initial developmental delay
Diagnosis/Definite -
Phenotype details severe developmental delay; absence of language; behavioral abnormalities; hypotonia, spasticity; seizures; no movement disorder; MRI thinning of corpus callosum and splenium, periventricular white matter loss; failure to thrive; sucking/feeding difficulty; thin/sparse scalp hair; hypertrichosis; no thick eyebrows; no long eyelashes; no ptosis; thin upper lip vermilion; no thick lower lip vermilion; normal palate; nose upturned/anteverted nostrils; 5th finger or toe/nails abnormaliy; scoliosis; inguinal hernia; undescended testis; eczema
Inheritance Isolated (sporadic)
Age/Examination 4y (4 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2018-12-28 14:25:32 +01:00 (CET)
Date last edited N/A

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