Phenotype #0000254894

Individual ID	00359621
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	birth 40w, weight 2500g (3-10th centile), length 49cm (42nd centile); neonatal hypoglycemia, tachypnea (birth), admitted to NICU for 1m; weight 52.7kg 9y2m (>97th centile), length 137cm 9y2m (75th centile), OFC 51cm 9y 2m (50th centile); accessory band across left ventricle heart, horseshoe kidney, anterior ectopic anus; moderate hypotonia; moderate intellectual disability; normal vision; bilateral hearing loss, wears aids; no seizures; MRI-brain thinning posterior body corpus callosum, non-specific abnormal signal genu corpus callosum, ventriculomegaly; prominent, straight and dark eyebrows with synophrys; long palpebral fissures with lateral extension, epicanthus inversus, long dark eyelashes, striking blue irides; short nose with small nares, hypoplastic alae nasi, narrow base, high nasal bridge; mid-face hypoplasia; normal mouth; low-set large ears with long fleshy lobes; short neck; hirsutism on back, fibro-fatty deposition lateral dorsal aspect torso with thickened overlying skin ; significant cutaneous syndactyly of 2-3 toes, brachydactyly, tapering fingers; nasal voice with some articulation difficulties, marked truncal obesity
Inheritance	Isolated (sporadic)
Age/Examination	9y2m (9 years, 2 months)
Age/Diagnosis	-
Age/Onset	3y10m
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-04-02 17:28:47 +02:00 (CEST)
Date last edited	N/A