Mendelian neurodevelopmental disorder

Findings

No curated finding names Mendelian neurodevelopmental disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• hereditary neurological disease
• neurodevelopmental disorder

Narrower terms (283)

• AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
• alternating hemiplegia of childhood
• Amish lethal microcephaly
• Au-Kline syndrome
• autosomal dominant primary microcephaly
• autosomal recessive primary microcephaly
• cerebellar atrophy, visual impairment, and psychomotor retardation;
• cerebral palsy, spastic quadriplegic, 2
• cerebral palsy, spastic quadriplegic, 3
• CK syndrome
• complex cortical dysplasia with other brain malformations 5
• developmental delay with autism spectrum disorder and gait instability
• developmental delay with variable intellectual impairment and behavioral abnormalities
• Harel-Yoon syndrome
• Houge-Janssens syndrome 3
• intellectual developmental disorder and retinitis pigmentosa; IDDRP