Phenotype #0000335928

Individual ID	00446726
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	GDACCF
Phenotype details	see paper; ..., birth 38w; respiratory distress, apnea-bradycardia; no fetal hydrops/edema; no feeding difficulty, no failure to thrive; no spasticity extremities; no recurrent infections; no renal anomalies; secundum type atrial septal defect; no sketelal anomalies; sandal gap, pes planus, 5th finger clinodactyly; corpus callosum hypoplasia; colpocephaly, enlarged occipital horns and lateralization of the frontal horns of the lateral ventricles; no seizures, EEG normal; delayed motor development, >2y-walk, stereotypic stiff upholded arms and outward rotation of feet during running, fine motor; intellectual disability; speech delay; flat affect, occasional temper outbursts, aggression, withdrawn nature, shyness; amblyopia, strabismus convergent strabisms astigmatism, cone dystrophy; no hearing problems; no altered sensation pain/heat/smell/touch; narrow palpebral fissures; long face, low anterior hairline; pointed chin; nose narrow nasal bridge, broad nasal base; thin upper lip, everted lower lip; pointed teeth; normal ears; no hair/skin/nail anomalies; no haematological problems; inguinal hernia
Inheritance	Isolated (sporadic)
Age/Examination	9y (9 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