Phenotype #0000347494

Individual ID	00459418
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., fetal movements weakened 1w before delivery, normal delivery; birth 38w6d, no asphyxia, apgar 8. Unable to breastfeed until 2w, infused with milk, weight 2.77kg, length 49cm, OFC 31.5cm (-1.1 SD); weight 11.8kg (-3.1 SD), length 123cm (-3.4 SD), OFC 45cm (-5.9 SD); profound global developmental delay; bedridden; speech no meaningful words; growth failure, recurrent vomiting neonatal period; CT scan 8d-transient epidural hematoma,12y-abnormality; MRI brain 9y9m-bilateral periventricular nodular heterotopia, microcephaly, enlargement lateral ventricles, corpus callosum hypoplasia; EEG 14y-sporadic focal waves focal at F4; bradykinesia; hypotonia; no hyperreflexia; ataxia slightly recognized in sitting position; profound intellectual disability; 11y-status epilepticus seizures due to acute encephalopathy; poor eye contact, hypersensitivity on face/limbs; ocular pursuit (+), normal tendon reflex, no abnormal reflex; widely spaced eyes, epicanthus, tented upper lip, short philtrum; pes varus, mild ankle joint contracture; small appetite, frequent vomiting due to gastroesophageal reflux; no hert defects; right testis elevated, remained in abdominal cavity
Inheritance	Familial, autosomal recessive
Age/Examination	11y (11 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-12-27 14:26:09 +01:00 (CET)
Date last edited	N/A