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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

Senior-Loken syndrome 6
MedGen UID:
387907
Concept ID:
C1857779
Disease or Syndrome
Senior-Loken syndrome-6 (SLSN6) is an autosomal recessive disorder characterized by the association of nephronophthisis resulting in end-stage renal disease in the second decade of life with retinal degeneration (Sayer et al., 2006). For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900.
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.
Spinocerebellar ataxia type 29
MedGen UID:
350085
Concept ID:
C1861732
Disease or Syndrome
Spinocerebellar ataxia-29 (SCA29) is an autosomal dominant neurologic disorder characterized by onset in infancy of delayed motor development and mild cognitive delay. Affected individuals develop a very slowly progressive or nonprogressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor (summary by Huang et al., 2012). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
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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