Pitt-Hopkins-like syndrome 2
Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0016377
Pitt-Hopkins-like syndrome
is_a
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
NRXN1 Pitt-Hopkins-like syndrome
exact
NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance
exact
PTHSL2
exact
Pitt-Hopkins-like syndrome 2
exact
Pitt-Hopkins-like syndrome caused by mutation in NRXN1
exact
Pitt-Hopkins-like syndrome type 2
exact