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Inferior cerebellar vermis hypoplasia

MedGen UID:
Concept ID:
Congenital Abnormality; Finding
Synonym: Inferior vermis hypoplasia
HPO: HP:0007068


Underdevelopment of the inferior portion of the vermis of cerebellum. [from HPO]

Term Hierarchy

Conditions with this feature

Marden-Walker syndrome
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Concept ID:
Disease or Syndrome
Marden-Walker syndrome (MWKS) is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis, and joint contractures. Other features may include Dandy-Walker malformation with hydrocephalus and vertebral abnormalities (summary by Schrander-Stumpel et al., 1993). There are 2 distal arthrogryposis syndromes with features overlapping those of Marden-Walker syndrome that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; 114300) and distal arthrogryposis type 5 (DA5; 108145), which are distinguished by the presence of cleft palate and ocular abnormalities, respectively. McMillin et al. (2014) suggested that the 3 disorders may represent variable expressivity of the same condition.
X-linked complicated corpus callosum dysgenesis
MedGen UID:
Concept ID:
Disease or Syndrome
L1 syndrome involves a phenotypic spectrum ranging from severe to mild and includes three clinical phenotypes: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS). MASA (mental retardation [intellectual disability], aphasia [delayed speech], spastic paraplegia [shuffling gait], adducted thumbs) syndrome including X-linked complicated hereditary spastic paraplegia type 1. X-linked complicated corpus callosum agenesis. Males with HSAS are born with severe hydrocephalus, adducted thumbs, and spasticity; intellectual disability is severe. In less severely affected males, hydrocephalus may be subclinically present and documented only because of developmental delay; intellectual disability ranges from mild (IQ: 50-70) to moderate (IQ: 30-50). It is important to note that all phenotypes can be observed in affected individuals within the same family.
Microphthalmia with brain and digit anomalies
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Concept ID:
Disease or Syndrome
This syndrome has characteristics of anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.
Intellectual disability, autosomal recessive 13
MedGen UID:
Concept ID:
Mental or Behavioral Dysfunction
Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene.
Autosomal recessive spinocerebellar ataxia 13
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Disease or Syndrome
Autosomal recessive spinocerebellar ataxia-13 (SCAR13) is an autosomal recessive neurologic disorder characterized by delayed psychomotor development beginning in infancy. Affected individuals show mildly to profoundly impaired intellectual development with poor or absent speech as well as gait and stance ataxia and hyperreflexia. Most individuals also have eye movement abnormalities. Brain MRI shows cerebellar atrophy and ventriculomegaly (Guergueltcheva et al., 2012).
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
MedGen UID:
Concept ID:
Disease or Syndrome
VLDLR cerebellar hypoplasia (VLDLR-CH) is characterized by non-progressive congenital ataxia that is predominantly truncal and results in delayed ambulation, moderate-to-profound intellectual disability, dysarthria, strabismus, and seizures. Children either learn to walk very late (often after age 6 years) or never achieve independent ambulation. Brain MRI findings include hypoplasia of the inferior portion of the cerebellar vermis and hemispheres, simplified gyration of the cerebral hemispheres, and small brain stem – particularly the pons.
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
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Disease or Syndrome
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
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Disease or Syndrome
ASXL3-related disorder is characterized by developmental delay or intellectual disability, typically in the moderate to severe range, with speech and language delay and/or absent speech. Affected individuals may also display autistic features. There may be issues with feeding. While dysmorphic facial features have been described, they are typically nonspecific. Affected individuals may also have hypotonia that can transition to spasticity resulting in unusual posture with flexion contractions of the elbows, wrists, and fingers. Other findings may include poor postnatal growth, strabismus, seizures, sleep disturbance, and dental anomalies.
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
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Disease or Syndrome
Developmental and epileptic encephalopathy, 88
MedGen UID:
Concept ID:
Disease or Syndrome
Developmental and epileptic encephalopathy-88 (DEE88) is an autosomal recessive severe neurologic disorder characterized by global developmental delay, early-onset epilepsy, and progressive microcephaly. Brain MRI findings may include corpus callosum abnormalities, prominent ventricles, and mild hypoplasia of the inferior vermis and pons (Broeks et al., 2019). For a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see 308350.
Joubert syndrome 38
MedGen UID:
Concept ID:
Disease or Syndrome
Joubert syndrome-38 (JBTS38) is characterized by hypotonia, global developmental delay, oculomotor apraxia, and breathing abnormalities, with a 'molar tooth sign' on brain MRI. Patients also exhibit pituitary abnormalities with growth hormone deficiency (Stephen et al., 2017). For a general phenotypic description and discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300).
Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
MedGen UID:
Concept ID:
Disease or Syndrome
Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities (NDDRSB) is a severe autosomal recessive disorder characterized by onset of these features in infancy. Affected individuals present with respiratory failure requiring intubation soon after birth; some die due to cardiorespiratory insufficiency. Those that survive show severe global developmental delay, refractory myoclonic seizures, hyperkinetic movements with exaggerated startle response, and microcephaly with dysmorphic features. Additional findings may include sensorineural hearing loss and ocular defects. Brain imaging shows variable abnormalities consistent with progressive neurodegeneration (Cali et al., 2022).

Professional guidelines


Volpe P, De Robertis V, Fanelli T, Volpe G, Olivieri C, Boito S, Persico N
Ultrasound Obstet Gynecol 2023 Dec;62(6):875-881. doi: 10.1002/uog.26278. PMID: 37266920
Bledsoe J, Semrud-Clikeman M, Pliszka SR
Biol Psychiatry 2009 Apr 1;65(7):620-4. Epub 2009 Jan 15 doi: 10.1016/j.biopsych.2008.11.030. PMID: 19150052Free PMC Article

Recent clinical studies


Mordaunt D, Oftedal BE, McLauchlan A, Coates D, Waters W, Scott H, Barnett C
Pediatr Neurol 2015 Feb;52(2):230-4.e1. Epub 2014 Oct 13 doi: 10.1016/j.pediatrneurol.2014.09.002. PMID: 25693585
Lee BJ, Kim JH, Yu YS
Ophthalmic Genet 2010 Jun;31(2):89-93. doi: 10.3109/13816811003620509. PMID: 20450312

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