Global Variome shared LOVD

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Phenotype #0000230571 Individual ID 00303493 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details birth weight -2 SD, OFC –2.2 SD; postnatal weight –0.9 SD, OFC –4.3 SD; postnatal growth deficiency; severe developmental delay/initellectual disability; no seizures; hypotonia, contractures; no endocrine issues; hypothyroidism; immunodeficiency; camptodactyly, distal arthrogry posis; pale optic nerves; exzema; no pectus; scoliosis; inguinal hernia; cardiac ASD/VS D/PDA; renal pelviectasis; no lymphatic malformations; recurrent infections; hair whorls; medial flared eyebrows; short forehead; hypertelorism; no wide palpebral fissures; no everted lateral eyelids; no epicanthal folds; bilateral ptosis; narrow nasal bridge; flared nostrils; broad nasal tip; no low-hanging columella; underdeveloped midface; short philtrum; thin upper vermillion; wide mouth; small low-set ears; upslanting palpebral fissures, medial flared eyebrows, small chin; MRI brain mildly thin white matter, ventriculomegaly, thin corpus callosum Inheritance Isolated (sporadic) Age/Examination 15y (15 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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