Global Variome shared LOVD

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Phenotype #0000230570 Individual ID 00303492 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details birth weight –1.5 SD, OFC –2 SD; postnatal weight –1 SD, OFC –3.5 SD; postnatal growth deficiency; severe developmental delay/initellectual disability; seizures; hypotonia; low growth hormone; no hypothyroidism; no immunodeficiency; camptodactyly; optic atrophy; normal skin; no pectus; scoliosis; inguinal hernia; no cardiac defects; no gastrourigenital defects; no lymphatic malformations; no recurrent infections; normal hair; normal eyebrows; normal forehead; no hypertelorism; wide palpebral fissures; no everted lateral eyelids; epicanthal folds; no ptosis; high nasal bridge; no flared nostrils; up nasal tip; low-hanging columella; no underdeveloped midface; short philtrum; no thin upper vermillion; corners down mouth; normal ears; long neck; MRI brain diffuse atrophy, decreased white matter, ventriculomegaly, thin corpus callosum, diffuse atrophy, mild vermis hypoplasia Inheritance Isolated (sporadic) Age/Examination 14y (14 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 2020-06-15 09:56:59 +02:00 (CEST) Date last edited N/A

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