Global Variome shared LOVD

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Phenotype #0000209273 Individual ID 00274330 Associated disease ? Diagnosis/Initial Carey-Fineman-Ziter syndrome Diagnosis/Definite CFZS Phenotype details facial weakness; upturned/broad nasal tip; micro/retrognathia; no abducens nerve palsy; normal cognition; delayed motor milestone; generalized muscle hypoplasia; growth failure; feeding problems; no ptosis; palate high/cleft; gastro/jejunostomy; no thin tubular neck; no pectoralis hypoplasia; no hypoglossia; scoliosis; no pulmonary hypertension; raised CPK (282 IU/L); MRI brain normal Inheritance Familial, autosomal recessive Age/Examination 7y6m (7 years, 6 months) 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 2019-12-29 12:15:12 +01:00 (CET) Date last edited N/A

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