Phenotype #0000335926

Individual ID	00446724
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	GDACCF
Phenotype details	see paper; ..., birth 40w; respiratory distress; no fetal hydrops/edema; tube feeding perinatally; hyperlaxity limbs; no hypotonia; recurrent infections urinary tract and airway; no renal anomalies; no cardiac defect; scoliosis and lordosis, osteoporosis, stress fractures; bilat. clubfoot, proximally placed trigger thumbs, brachydactyly, 5th toe clinodactyly, overriding 2nd toe; no seizures, EEG normal; delayed motor development, 1y8m-walk; moderate intellectual disability; speech delay; shyness, ASD, maladaption; hypermetropia, strabismus; no hearing problems; heat intolerance; mild upslant palpebral fissures, straight eyebrows; triangular face; broad, squared chin; nose long columella, broad nasal base, hypoplastic alae nasi; normal mouth, normal lips; crowded teeth; ears prominent antihelix, fleshy lobules; thin, straight hair, facial lentigines; thrombocytopenia attributed to metamizol; normal genitals
Inheritance	Isolated (sporadic)
Age/Examination	36y (36 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-01-22 13:14:03 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD