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Aplasia/Hypoplasia of the cerebellar vermis

MedGen UID:
340931
Concept ID:
C1855676
Congenital Abnormality; Finding
Synonyms: Cerebellar vermis aplasia/ hypoplasia; Cerebellar vermis aplasia/hypoplasia; Cerebellar vermis hypoplasia/aplasia
 
HPO: HP:0006817

Definition

Absence or underdevelopment of the vermis of cerebellum. [from HPO]

Conditions with this feature

Joubert syndrome 5
MedGen UID:
347545
Concept ID:
C1857780
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
COACH syndrome 1
MedGen UID:
1769861
Concept ID:
C5435651
Disease or Syndrome
Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene.

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