Global Variome shared LOVD

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Phenotype #0000230582 Individual ID 00303504 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details postnatal weight –1.5 SD; no postnatal growth deficiency; no developmental delay, no initellectual disability; no seizures; no hypotonia, no contractures; no endocrine issues; no hypothyroidism; no immunodeficiency; normal hands, normal feet; normal skin; pectus; no scoliosis; no inguinal hernia; no cardiac defects; no gastrourigenital defects; no lymphatic malformations; no recurrent infections; normal eyebrows; broad forehead; no hypertelorism; no wide palpebral fissures; no epicanthal folds; normal nasal bridge; no flared nostrils; up broad nasal tip; no underdeveloped midface; long philtrum; thin upper vermillion; normal mouth; low-set ears; webbed neck Inheritance Familial, autosomal dominant Age/Examination >18y (later than 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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