Phenotype #0000325675

Individual ID	00435488
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	NEDCFSA
Phenotype details	see paper; ..., no pregnancy complication, vacuum extraction, Apgar 4/7, NICU; birth 41w+4d; language/speech delay, 3y-no words, 5y-started to make 1-2 word sentences; motor delay, 18m-first steps; moderate intellectual disability; autism spectrum disorder; irritability, anger, anxiety (associated with obstipation periods); No contact except parents and physician; no psychosis/schizophrenia; uses psychiatric drugs, Oxcarbazepine for behavioural problems Clobazam; sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; hard to independetly walk (uses assitive tools like wheelchair); poor fine motorical skills; 2y-MRI brain normal; joint hypermobility (Breighton score 6/8); no syndactyly; no vertebral abnormalities; clinodactyly IV and V bilateral,short and broad feet,; no pectus excavatum; square face, flat nasal bridge, deep set elanguage/speech delay, epicanthal folds, short filtrum, cupid bow lips, prominent ears; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; recurrent ear infections; no congenital heart disease; neonatal feeding difficulties; gastroesophageal reflux; constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; 1 cafe-au-lait spot; adenotomy due to hyperplasia; bronchial asthma; very common airway infections
Inheritance	Isolated (sporadic)
Age/Examination	9y (9 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

MYH9 (myosin, heavy chain 9, non-muscle)

Phenotype #0000325675