Global Variome shared LOVD

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Phenotype #0000159265 Individual ID 00210700 Associated disease ? Diagnosis/Initial developmental delay Diagnosis/Definite - Phenotype details severe developmental delay; absence of language; no behavioral abnormalities ; hypotonia; no seizures; movement disorder; MRI generalized cerebral atrophy, hypointensity globus pallidus; failure to thrive; sucking/feeding difficulty; thin/sparse scalp hair; no hypertrichosis; thick eyebrows; no long eyelashes; ptosis; thin upper lip vermilion; no thick lower lip vermilion; normal palate; nose upturned/anteverted nostrils; no 5th finger or toe/nails abnormaliy; scoliosis; left coronary distension; no inguinal hernia; eczema, scleroderma Inheritance Isolated (sporadic) Age/Examination 18y (18 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 International 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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