Phenotype #0000309231

Individual ID 00417858
Associated disease FADS
Phenotype details prenatal cystic hygroma polyhydramnios; see paper; ..., birth 35w+5, low weight; neonatal death; triangular face, downslanted palpebral fissures, small chin, cleft palate; respiratory insufficiency due to muscle weakness, diaphragm right-sided eventration, pulmonary hypoplasia, ventilatory support; generalized muscle weakness; clinodactyly; bilateral cryptorchidism; bilateral renal pelvis distension
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 08:30:53 +02:00 (CEST)
Date last edited 2022-09-27 09:00:41 +02:00 (CEST)

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