Global Variome shared LOVD

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Phenotype #0000243032 Individual ID 00324489 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details prenatal growth retardation (−2SDs); postnatal growth retardation (−2SDs); developmental delay/intellectual disability; speech delay; hypotonia; high forehead; no high nasal bridge; no long nose; thick lips; short chin; no pointed china; Pierre Robin sequence; misalignment of incisor; skeletal anomalies; short hands/brachydactyly; no hip defects; no thin/short long bones; no squared vertebrae; no abnormal cervical vertebrae; no 11 pairs of ribs; no scoliosis; no hearing loss (conductive); patent foramen ovale Inheritance Familial, autosomal recessive Age/Examination 26m 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 2020-12-14 19:34:41 +01:00 (CET) Date last edited N/A

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