DGDP #
042
Gender
F
Year of Birth
2008
Karyotype
t(X;15)(q13;q21)
Phenotype

- CNS: seizures, white matter disease, hypotonia
- Hypopigmented lesions along Blacshko's lines, growth retardation, depressed midface, upturned nose
Notes N/A
LBL
Yes
DNA
Yes