Phenotype #0000335927

Individual ID	00446725
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	GDACCF
Phenotype details	see paper; ..., birth 35w; respiratory distress, ventilation support; no fetal hydrops/edema; no feeding difficulty, no failure to thrive; no spasticity extremities; no hypotonia; no recurrent infections; renal tubular acidosis, nephrocalcinosis; no cardiac defect; no sketelal anomalies; bilateral clubfoot, proximally placed trigger thumbs, brachydactyly, 5th toe clinodactyly, overriding 2nd toe; no corpus callosum agenesis/hypoplasia; no seizures, EEG normal; delayed motor development, y-walk; mild intellectual disability; speech delay; no behavioural problems; yes, myopia; no hearing problems; high pain treshold; upslanted eyes, narrow, fullness of the medial two thirds upper eyelids, stabismus, esotropia, glaucoma; long face; broad, square chin; large nose, high and straight nasal ridge, broad nasal base, long columella, mildly hypoplastic alae nasi; high arced palate, thin upper lip, long, deeply grooved philtrum; no dental anomalies; ears mildly low set, attached lobules; abnormal dermatoglyphics of palms, dry hair; no haematological problems; bilateral hydrocele, inguinal hernia
Inheritance	Isolated (sporadic)
Age/Examination	17y (17 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