Phenotype #0000335923

Individual ID 00446721
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite GDACCF
Phenotype details see paper; ..., birth 364+4; respiratory distress, multiple apneic events; no fetal hydrops/edema; poor feeding, reflux; no spasticity extremities; hypotonia; no recurrent infections; no renal anomalies; small patent foramen ovale, mild left pulmonary artery stenosis; torticollis; no seizures, EEG normal; delayed motor development, 12-13m-craw; intellectual disability, global delay; speech delay; no behavioural problems; no ophthalmological problems; eyes normal; plagiocephaly; normal chin; nose pointed nasal tip, long columella; normal mouth, normal lips; no dental anomalies; normal ears; no hair/skin/nail anomalies; no haematological problems
Inheritance Isolated (sporadic)
Age/Examination 12m
Age/Diagnosis -
Age/Onset -
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 2024-01-22 13:14:03 +01:00 (CET)
Date last edited N/A

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