Global Variome shared LOVD

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Phenotype #0000230572 Individual ID 00303494 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details birth weight –4 SD; postnatal weight –5 SD, OFC –0.5 SD; postnatal growth deficiency; severe developmental delay/initellectual disability; no seizures; hypotonia; low growth hormone; no hypothyroidism; immunodeficiency; syndactyly; hyperopia, strabismus, optic atrophy, thick corneas; skin multiple nevi; no pectus; scoliosis; no inguinal hernia; no cardiac defects; renal dysplasia; pericardial effusion; recurrent infections; hair whorls; normal eyebrows; broad forehead; no hypertelorism; no wide palpebral fissures; no everted lateral eyelids; no epicanthal folds; no ptosis; high narrow nasal bridge; no flared nostrils; broad nasal tip; no low-hanging columella; no underdeveloped midface; normal philtrum; thin upper vermillion; wide mouth; normal ears; cleft palate, widely spaced teeth; MRI brain mildly prominent perivascular white matter signal intensities (posteriorly), mildly thick corpus callosum 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 2020-06-15 09:56:59 +02:00 (CEST) Date last edited N/A

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