Phenotype #0000295656

Individual ID 00402905
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details polyhydramnios; mildly hypotonic facies, posteriorly rotated ears, small chin, high arched palate; gross developmental delay, fine motor delays (improved); normal growth; OFC normal; distal arthrogryposis (improved), axial hypotonia, non-specific myopathy, tracheomalacia, vocal cord paralysis (improved); MRI brain normal; ophthalmology normal; no hearing loss; bilateral hip dislocation; oxygen supplementation and tracheostomy (resolved), cryptorchidism, gastrostomy feeding (improved), constipation
Inheritance Familial, autosomal recessive
Age/Examination 5y (5 years)
Age/Diagnosis -
Age/Onset 1d
Phenotype/Onset -
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 2022-02-14 10:40:27 +01:00 (CET)
Date last edited N/A

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