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1,487 Possible Causes for Cerebellar Hypoplasia, Congenital Onset

  • Dysequilibrium Syndrome

    The differential diagnosis of VLDLR -associated cerebellar hypoplasia ( VLDLR -CH) includes autosomal recessive conditions characterized by congenital or very early-onset[ncbi.nlm.nih.gov] From Wikipedia, the free encyclopedia Jump to navigation Jump to search VLDLR-associated cerebellar hypoplasia Other names Dysequilibrium syndrome, DES ; Nonprogressive cerebellar[en.wikipedia.org] An autosomal recessive syndrome of nonprogressive cerebellar ataxia and mental retardation is associated with inferior cerebellar hypoplasia and mild cerebral gyral simplification[ncbi.nlm.nih.gov]

  • Congenital Merosin-Positive Muscular Dystrophy

    However, data on early-onset and usually severe congenital muscular dystrophies are limited.[ncbi.nlm.nih.gov] The second child, a 3-year-old ambulant girl with subtle learning problems, had mild cerebellar hypoplasia and a large subarachnoid space when scanned at 16 months.[ncbi.nlm.nih.gov] The disease spectrum within the dystroglycanopathies ranges from congenital onset with CNS and eye involvement, to congenital onset without eye involvement and mild development[ncbi.nlm.nih.gov]

  • Microcephalic Primordial Dwarfism due to ZNF335 Deficiency

    onset Dilation of lateral ventricles Flexion contracture Hypertrophic cardiomyopathy Abnormality of the dentition Atrial septal defect Feeding difficulties Cryptorchidism[mendelian.co] onset Cerebral atrophy Acidosis Progressive microcephaly Myopathy Hyperreflexia Optic atrophy Cerebral cortical atrophy Intellectual disability Hypoplasia of the pons Severe[mendelian.co] […] malformations, deformations and chromosomal abnormalities - Epidemiological data: Class of prevalence: Average age onset: neonatal/infancy Average age of death: - Type of[csbg.cnb.csic.es]

  • Amish Lethal Microcephaly

    onset Symptoms present at birth 0003577 Flexion contracture Flexed joint that cannot be straightened 0001371 Lactic acidosis Increased lactate in body 0003128 Muscular hypotonia[rarediseases.info.nih.gov] onset Brain atrophy Ptosis Open mouth High palate Congenital muscular dystrophy Myopathic facies Generalized muscle weakness Muscular dystrophy Ventriculomegaly Strabismus[mendelian.co] hypoplasia.[jhu.pure.elsevier.com]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    onset Symptoms present at birth 0003577 Delayed speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech[rarediseases.info.nih.gov] Localized cerebellar hypoplasia. Fetal coronal T2 image ( A ) shows a left-sided cerebellar hematoma ( arrow ).[ajnr.org] , teenage onset, cerebellar atrophy [ 65 ] SCAR13 GRM1 614831 Cognitive impairment, mild pyramidal signs, short stature, seizures, congenital onset, cerebellar atrophy [ 66[cerebellumandataxias.biomedcentral.com]

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    onset X-linked recessive inheritance Constipation Respiratory failure Gastroesophageal reflux Feeding difficulties in infancy Cerebral hypomyelination Need help with a diagnosis[mendelian.co] hypoplasia With mental retardation and cerebellar cysts Normal Normal Normal Cerebellar hypoplasia Cerebellar cysts 1q-42 Merosin positive CMD Typical form Mental retardation[mrineonatalbrain.com] Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): (no data available) Epidemiological data: Class of prevalence: Average age onset[csbg.cnb.csic.es]

  • Shaheen Syndrome

    , 5 21 737 c BLC018 Bile Acid Synthesis Defect, Congenital, 6 21 738 EPD032 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 15 739 c SLV006[malacards.org] Severe brain malformations such as lissencephaly, cerebellar hypoplasia, and dysgenesis/agenesis of the corpus callosum are frequently present.[disorders.eyes.arizona.edu] Cataract Microcornea Syndrome Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome Cataracts, Ataxia, Short Stature, and Mental Retardation Cayler Cardiofacial Syndrome cerebellar[rgd.mcw.edu]

  • Seckel Syndrome

    […] liver - See Nodular regenerative hyperplasia Nodulosis arthropathy osteolysis syndrome - See Torg Winchester syndrome Noma Noma neonatorum - See Noma NOMID - See Neonatal Onset[rarediseases.info.nih.gov] hypoplasia Small cerebellum Underdeveloped cerebellum [ more ] 0001321 Cerebellar vermis hypoplasia 0001320 Cleft palate 0000175 Clitoral hypertrophy Enlarged clitoris 0008665[rarediseases.info.nih.gov] hypoplasia Small cerebellum Underdeveloped cerebellum [ more ] 0001321 Cerebellar vermis hypoplasia 0001320 Cleft palate Cleft roof of mouth 0000175 Clinodactyly of the 5th[rarediseases.info.nih.gov]

  • Lissencephaly 4 with Microcephaly

    It has been classified in two types based on the onset: [7] Congenital Isolated Familial ( autosomal recessive ) microcephaly Autosomal dominant microcephaly X-linked microcephaly[howlingpixel.com] Diffuse pachygyria with cerebellar hypoplasia: A milder form of microlissencephaly or a new genetic syndrome?[scinapse.io] There was hypoplasia of bilateral cerebellar hemisphere.[webmedcentral.com]

  • Wiedemann-Rautenstrauch Syndrome

    onset Symptoms present at birth 0003577 Delayed closure of the anterior fontanelle Later than typical closing of soft spot of skull 0001476 Dysphagia Poor swallowing Swallowing[rarediseases.info.nih.gov] […] clavicles hypomineralization ( Figures 1b and c ), maxillary hypoplasia ( Figure 1d ), cerebellar vermis hypoplasia ( Figure 2a ) and low-set ears ( Figure 2b ).[nature.com] […] through HPO Abnormality of cardiovascular system morphology 0030680 Absence of subcutaneous fat Absent fat below the skin 0007485 Autosomal recessive inheritance 0000007 Congenital[rarediseases.info.nih.gov]

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