Genetics

Cerebral cavernous malformation

SHOX gene

NPHS1 gene

Nonsyndromic hearing loss

SMAD4 gene

ST3GAL5 gene

PDHX gene

LRP5 gene

COL4A4 gene

Spinal muscular atrophy with respiratory distress type 1

Craniometaphyseal dysplasia

RPS17 gene