Phenotype #0000333236

Individual ID	00443981
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental syndrome
Diagnosis/Definite	-
Phenotype details	see paper; ..., 3y-deceased; prenatal intrauterine growth retardation, oligohydramnios, bilateral hydro-nephrosis; hypertelorism; downward palpebral fissures (slant); depressed nasal bridge; smooth philtrum, high arched palate; low-set ears, broad inferior crus of antihelix; normal hair; turricephaly; proptosis; sandal gap; motor delay; <15m-turning over; not sitting; did not achieve walking; speech delay; no speech; did not achieve toilet trained; no autistic features; stereotypy; sleep-wake cycle disturbance; no clinical seizures; EEG diffuse non-epileptiform abnormal activity, diffuse abnormally slow rhythms; hypotonia; cerebral imaging agenesis of corpus callosum, frontotemporally widened subarachnoid space; feeding difficulties (gastrostomy feeding, frequent vomiting); congenital sensorineural hearing impairment; strabismus; atrial septal defect; urogenital abnormalities (hydronephrosis, renal cyst, cryptorchidism, hypospadias, anal atresia with fistula); frequent infections (bronchitis, otitis)
Inheritance	Familial, autosomal recessive
Age/Examination	15m
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-12-09 16:29:47 +01:00 (CET)
Date last edited	N/A