Ponto-Cerebellar Hypoplasia

Autosomal RecessiveMitochondrialVariableAutosomal DominantDe NovoAtaxia/CerebellarOMIM 277470

ataxia/recatax.html#Ponto-Cerebellar Hypoplasia

Overview

From WUSTL Neuromuscular

PCH1 + Spinal muscular atrophy PCH1A: VRK1; 14q32 PCH1B: EXOSC3; 9p13 PCH1C: EXOSC8; 13q13 PCH1D: EXOSC9; 4q27 PCH1E: SLC25A46; 5q22 Lethal Congenital PCH1F: EXOSC1; 10q24 PCH: KIF26B; 1q44 PCH2: Progressive cerebral atrophy PCH2A: TSEN54; 17q25 PCH2B: TSEN2; 3p25 PCH2C: TSEN34; 19q13 PCH2D: SEPSECS; 4p15 PCH2E: VPS53; 17p13 PCH2F: TSEN15; 1q25 Also see: Congenital ataxia PCH3: Progressive microcephaly (CLAM); PCLO; 7q21 PCH4: Fatal infantile: TSEN54; 17q25 PCH5: Fetal onset PCH6: Pontocerebellar hypoplasia; RARS2; 6q15 PCH7: PCH + Hypogonadism; TOE1; 1p34 PCH8: PCH + Microcephaly; CHMP1A; 16q

OMIM Entries

OMIM #277470 OMIM #608755 OMIM #612389 OMIM #608753 OMIM #612390 OMIM #608754 OMIM #613811 OMIM #613009 OMIM #615851 OMIM #615850 OMIM #617026 OMIM #608756 OMIM #608027 OMIM #604918 OMIM #604020 OMIM #604124 OMIM #606630 OMIM #611523 OMIM #611524 OMIM #225753 OMIM #610204 OMIM #182810 OMIM #613477 OMIM #620540 OMIM #620528 OMIM #620538 OMIM #614969 OMIM #613931 OMIM #614961 OMIM #164010 OMIM #615803 OMIM #608757 OMIM #617695 OMIM #617687 OMIM #618606 OMIM #615738 OMIM #619301 OMIM #601301 OMIM #603055 OMIM #619302 OMIM #605585 OMIM #619527 OMIM #605391 OMIM #613668 OMIM #603810 OMIM #619304 OMIM #606493

External Resources

WUSTL Neuromuscular

Washington University Disease Center

OMIM

Online Mendelian Inheritance in Man

PubMed

Biomedical Literature

GeneReviews

NCBI Expert-Authored Reviews

Orphanet

Portal for Rare Diseases

NORD

National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.