Global Variome shared LOVD

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Phenotype #0000159263 Individual ID 00210698 Associated disease ? Diagnosis/Initial developmental delay Diagnosis/Definite - Phenotype details mild developmental delay; no speech impairment; behavioral abnormalities; hypotonia; no seizures; no movement disorder; 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; no skin problems Inheritance Isolated (sporadic) Age/Examination 2y (2 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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