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Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation

MedGen UID:: 1842868
•Concept ID:: C5681819
•: Disease or Syndrome

Synonym:	lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation

Monarch Initiative:	MONDO:0036217
Orphanet:	ORPHA615983

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CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVLethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation

Lethal multiple congenital anomalies/dysmorphic syndrome
- Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
  - Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation

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Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome d...
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation

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