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931 Possible Causes for Cerebellar Hypoplasia and Atrophy

  • Hoyeraal-Hreidarsson Syndrome

    Neuroimaging is the best diagnostic measure for this rare disorder, and CT, MRI Scan of Brain usually reveal cerebellar hypoplasia or atrophy, small brainstem, thin corpus[xpertdox.com] The diagnosis of Hoyeraal-Hreidarsson Syndrome may involve: Cerebellar hypoplasia/atrophy, small brainstem, thin corpus callosum and cerebral calcifications have been reported[dovemed.com] Diagnostic methods Cerebellar hypoplasia/atrophy, small brainstem, thin corpus callosum and cerebral calcifications have been reported on neuroimaging.[orpha.net]

  • Congenital Muscular Dystrophy

    hypoplasia/atrophy and patients with syringomyelia; c) CMD with prominent extra-CNS manifestations with Hirschprung disease and patients with severe cardiac disease; d) other[doi.org] atrophy [4] severe cerebellar hypoplasia, poor muscle tone, delayed in motor milestones, lack of coordination in motive skills, difficulty speaking, involuntary movements[en.wikipedia.org] (not otherwise classified); 4) Atypical CMDs: a) Autosomal Dominant CMD, b) CMD with central nervous system malformations and normal intelligence including patients with cerebellar[doi.org]

  • Kohlschütter-Tönz Syndrome

    The signs and symptoms of Kohlschütter-Tönz Syndrome may include: Ataxia Cerebellar hypoplasia Cerebral atrophy Epileptic encephalopathy Hypoplasia of dental enamel Hypsarrhythmia[dovemed.com] hypoplasia Small cerebellum Underdeveloped cerebellum [ more ] 0001321 Cerebral atrophy Degeneration of cerebrum 0002059 Epileptic encephalopathy 0200134 Hypoplasia of dental[rarediseases.info.nih.gov] […] body height Small stature [ more ] 0004322 Percent of people who have these symptoms is not available through HPO Ataxia 0001251 Autosomal recessive inheritance 0000007 Cerebellar[rarediseases.info.nih.gov]

  • Congenital Non-Progressive Ataxia

    In many cases, neuroimaging studies (CT scan, MRI) show cerebellar hypoplasia or atrophy, especially of the vermis, with occasional white matter changes, and diffuse atrophy[orpha.net] […] ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss Cerebellar ataxia, Cayman type Cerebellar ataxia - hypogonadism Cerebellar ataxia - ectodermal[sanfordresearch.org] hypoplasia syndrome X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome X-linked intellectual disability-craniofacioskeletal syndrome[se-atlas.de]

  • Dysequilibrium Syndrome

    MRI findings were variable from a normal cerebellum to marked cerebellar hypoplasia or atrophy and signal intensity changes.[ncbi.nlm.nih.gov] CAMRQ2 is characterized by cerebellar hypoplasia and CAMRQ4 by cerebellar atrophy. Imaging information for CAMRQ3 is limited.[ncbi.nlm.nih.gov] The pontocerebellar hypoplasias /atrophies (PCH).[ncbi.nlm.nih.gov]

  • Waisman Syndrome

    3 with cataract 165300 O P H N 1 Xq12 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance 300486 O RAI1 12q24.31 Immunodeficiency 9[institutobernabeu.com] FD1 Xp22.2 Retinitis pigmentosa 23 300424 Joubert syndrome 10 300804 Orofaciodigital syndrome I 311200 Simpson-Golabi-Behmel syndrome, type 2 300209 O P A 3 19q13.32 Optic atrophy[institutobernabeu.com]

  • Congenital Aplastic Anemia

    The diagnosis of Hoyeraal-Hreidarsson Syndrome may involve: Cerebellar hypoplasia/atrophy, small brainstem, thin corpus callosum and cerebral calcifications have been reported[dovemed.com] Diagnostic methods Cerebellar hypoplasia/atrophy, small brainstem, thin corpus callosum and cerebral calcifications have been reported on neuroimaging.[rarediseases.info.nih.gov] hypoplasia /atrophy, small brainstem, thin corpus callosum and cerebral calcifications.[en.wikipedia.org]

  • Benign Familial Infantile Epilepsy Type 4

    hypoplasia, CC malformation AR STXBP1 AD 6% SPTAN1 Cerebral atrophy, hypomyelination AD KCNQ2 Early (resolving) thalamic/BG hyperintensities AD ARHGEF9 Hyperpekplexia and[rch.org.au] D-glyceric acidaemia, glycine encephalopathy AR ARX Allelic with XLAG, dyskinesia, BG hyperintensities X 7% CDKL5 Atypical Rett syndrome, normal early interictal EEG XD SLC25A22 Cerebellar[rch.org.au]

  • Generalized Clonic or Tonic-Clonic Seizures

    […] of the mandible Abnormality of the clavicle Enlarged cerebellum Megalencephaly Mesomelia Pectus carinatum Thoracic hypoplasia Cerebellar atrophy Femoral bowing Delayed skeletal[mendelian.co] Craniosynostosis Deeply set eye Peripheral neuropathy Metaphyseal chondrodysplasia Abnormality of mitochondrial metabolism Cloverleaf skull Fibular bowing Central apnea Aplasia/Hypoplasia[mendelian.co]

  • Distal Spinal Muscular Atrophy Type 3

    Pontocerebellar Hypoplasia, Type 1c Hypomyelination With Spinal Muscular Atrophy And Cerebellar Hypoplasia PCH1C 0 616081 Genetic Test Registry Scapuloperoneal Spinal Muscular[ukgtn.nhs.uk] […] defect in VRK1 gene on chromosome 14q atrophy of the cerebral cortex, cerebellar and brain stem hypoplasia, absent dendate nucleus, loss of neurons in the basal ganglia Clinical[amboss.com] , Type 1a PCH1 Pontocerebellar Hypoplasia With Anterior Horn Cell Disease Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy PCH1A 607596 Genetic Test Registry[ukgtn.nhs.uk]

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