Phenotype #0000209270

Individual ID 00274327
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; congenital contractures; growth failure; feeding problems; ptosis; no palate high/cleft; gastro/jejunostomy; thin tubular neck; no pectoralis hypoplasia; no hypoglossia; no scoliosis; no pulmonary hypertension; MRI muscle isolated sartorius involvement
Inheritance Familial, autosomal recessive
Age/Examination 19y (19 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 InternationalCreative Commons License
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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