Phenotype #0000309234

Individual ID 00417861
Associated disease FADS
Phenotype details see paper; ..., prenatal cystic hygroma; birth 37w, low weight; neonatal death; triangular face, small chin, cleft palate; respiratory insufficiency due to muscle weakness, diaphragm extremely high domes, pulmonary hypoplasia; generalized muscle weakness; no clinodactyly; renal hypoplasia
Diagnosis/Initial perinatally lethal fetal akinesia
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2022-09-27 09:16:29 +02:00 (CEST)
Date last edited N/A

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