Global Variome shared LOVD

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Phenotype #0000073654 Individual ID 00095258 Associated disease BAMS Phenotype details arhinia; microphthalmia (R) with severe visual impairment, microphthalmia (L) with sclerocornea; midface hypoplasia, bifid philtral region, small mouth, high palate with soft palate cleft, small preauricular pit (R), hypoplasia of maxillary sinus, nuchal oedema, hypoplasia of nasolacrimal duct (L); micropenis, normal testes, hypogonadotropic hypogonadism; at birth, weight 25th%, head circumference 75th%, length >99th%; growth delayed, weight and height just over 9th%; severe learning difficulties; moderate persistent ductus arteriosus, and tiny persistent foramen ovale at birth Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 07y (7 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-01-13 12:30:06 +01:00 (CET) Date last edited 2017-01-13 12:41:06 +01:00 (CET)

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