Phenotype #0000325674

Individual ID	00435487
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	NEDCFSA
Phenotype details	see paper; ..., no complications pregnancy/delivery; birth 40w; language/speech delay, 18m-first words; motor delay, 22m-first steps; mild intellectual disability; no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances, social developmental delay; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; mild intention tremor, "wooden" motoric skills; poor fine motoric skills; MRI brain normal; joint hypermobility (Breighton score 6/8); no syndactyly; no vertebral abnormalities; finger clubbing, clinodactyly IV and V bilateral; no pectus excavatum; hip dysplasia; prominent forehead, full eyebrows, deep set elanguage/speech delay, prominent chin, almond shaped palpebral fissures; no lip/cleft palate; hypermetropia; no strabismus; normal hearing; systolic heart murmor; slow weight gain in first month due to breastfeeding problems, resolved after switching to bottle feeding; as baby gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; 2 Cafe-au-lait spots; night incontinence; commonly head and abdominal pain
Inheritance	Familial
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-08-03 13:47:25 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD