Phenotype #0000325787

Individual ID	00435602
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., severe intra-uterine growth retardation, small placenta, thin cord, birth 36+6w; no speech; not walking; non-verbal; moderate-severe intellectual disability; delayed gross motor skills; delayed fine motor skills; absence seizures, generalized convulsions; hypotonia; no movement disorder; MRI multiple dysmorphisms cerebrum and cerebellum, delayed myelination (now normal), periventricul cysts, hypoplastic ICA; happy demeanor; obstructive sleep apnea; brachycephaly, head asymmetry, broad forehead, triangular face shape, broad nasal bridge, telecanthus, hypertelorism, downslanted palpebral fissures, bilateral ptosis, high palate, microretrognathia s/p distraction , dysmorphic ears , mottled appearance of skull with widened diplotic space (acquired) , undulate clavicles , pectus excavatum, 11 pairs of ribs; intermittent exotropia, mild myopia, low vision; moderate conductive hearing impairment, stenosis of external auditory canal; GER dysphagia, G-tube, constipation; no recurrent infections; atrial septal defect; PFO, aortic root dilatation, pyloric stenosis, paraesophageal hernia, bilateral cryptorchidism, micropenis; laryngomalacia; tracheobronchomalacia; asthma; growth hormone deficiency
Inheritance	Isolated (sporadic)
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-08-05 19:25:13 +02:00 (CEST)
Date last edited	N/A