Phelan-McDermid syndrome
Description
A rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.
Cell Lines
- BCHi021-A
- BCHi021-A-1
- BCHi021-A-2
- BCHi021-A-3
- BCHi021-A-4
- BCHi021-A-5
- BCHi021-A-6
- BCHi021-A-1
- BCHi021-A-2
- BCHi021-A-3
- BCHi021-A-4
- BCHi021-A-5
- BCHi021-A-6
- BCHi040-A
- BCHi040-A-1
- BCHi040-A-1
- BCHi040-A-2
- BCHi040-A-2
- BCHi040-A-3
- BCHi040-A-3
- BCHi040-A-4
- BCHi040-A-4
- BCHi041-A
- BCHi041-A-1
- BCHi041-A-1
- BCHi041-A-2
- BCHi041-A-2
- BCHi041-A-3
- BCHi041-A-3
- BCHi041-A-4
- BCHi041-A-4
- BCHi043-A
- BCHi043-B
- BCHi044-A
- BCHi044-B
- BCHi047-A
- BCHi048-A
- CEBe033-A-2
- CEBe033-A-3
- CEBe033-A-4
- CEBe033-A-5
- CEBe033-A-6
- CEBe033-A-7
- UOHi003-A
- IMGTi001-A
- IMGTi001-B
Link
For more information, please consult the corresponding entry in Orphanet* .
*Orphanet: an online rare disease and orphan drug data base. Copyright, INSERM 1999. Available on http://www.orpha.net.