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64 Possible Causes for Cerebellar Ataxia, Hyperbiliverdinemia

  • Neuronal Ceroid Lipofuscinosis

    […] dystrophy type III Granular-lattice corneal dystrophy Granulomatosis with polyangiitis Gravidic intrahepatic cholestasis Gray platelet syndrome Gräsbeck-Imerslund disease Green[csbg.cnb.csic.es] We suggest CLN genes should be considered in the molecular analyses of patients presenting with adult-onset autosomal recessive cerebellar ataxia.[ncbi.nlm.nih.gov] At present (ages 56 and 54 years), visual, verbal, and cognitive losses have progressed and both patients have cerebellar ataxia and cannot walk without support.[ncbi.nlm.nih.gov]

  • Hypergonadotropic Hypogonadism-Cataract Syndrome

    Hyperbilirubinemia, Rotor Type; HBLRR OMIM:237800 Hyperbilirubinemia, Shunt, Primary; PSHB OMIM:237900 Hyperbilirubinemia, Transient Familial Neonatal; HBLRTFN OMIM:614156 Hyperbiliverdinemia[informatics.jax.org] We found nine distinct mutations that would disrupt the SIL1 protein in individuals with Marinesco-Sjögren syndrome, an autosomal recessive cerebellar ataxia complicated by[doi.org] Presentation The syndrome causes cerebellar ataxia (balance and coordination problems), mental retardation, congenital cataracts in early childhood, muscle weakness, inability[ipfs.io]

  • Autosomal Recessive Primary Microcephaly Type 10

    […] to 21-hydroxylase deficiency, 201910 UGT1A1 Hyperbilirubinemia, familial transcient neonatal, 237900 SLCO1B1-SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 BLVRA Hyperbiliverdinemia[gsdseq.ir] cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX[se-atlas.de] Hyperbiliverdinemia, 614156 (3) BLVRB G:600941 . . BLZF1 G:608692 . . BMF G:606266 . . BMI1 G:164831 . . BMIQ1 P:606641 . . BMIQ2 P:606643 . . BMIQ3 P:607446 . .[usegalaxy.org]

  • Waters-West Syndrome

    21-hydroxylase deficiency, 201910 UGT1A1 Hyperbilirubinemia, familial transcient neonatal, 237900 SLCO1B1- SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 BLVRA Hyperbiliverdinemia[gsdseq.ir] Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities[mendelian.co] Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1 Cerebellar Ataxia, Congenital,[ukgtn.nhs.uk]

  • Hypohidrotic Ectodermal Dysplasia

    […] dystrophy type III Granular-lattice corneal dystrophy Granulomatosis with polyangiitis Gravidic intrahepatic cholestasis Gray platelet syndrome Gräsbeck-Imerslund disease Green[csbg.cnb.csic.es] ataxia and ectodermal dysplasia Congenital ectodermal dysplasia of face Congenital hypoplasia of breast Contracture with ectodermal dysplasia and orofacial cleft syndrome[healthprovidersdata.com] ataxia type 1 [ ] Autosomal dominant cerebellar ataxia type 3 [ ] Autosomal dominant cerebellar ataxia type 4 [ ] Autosomal dominant cerebellar ataxia type I [ ] Autosomal[wikicure.fandom.com]

  • Hereditary Hyperekplexia

    Joubert syndrome 17 Cardiac conduction defect, nonspecific Lethal multiple pterygium syndrome Non-small cell lung cancer Acroerythrokeratoderma Renal hypodysplasia/aplasia 2 Hyperbiliverdinemia[amp.pharm.mssm.edu] Myoclonic epilepsy Progressive myoclonic epilepsies of children have varying degrees of cognitive decline, cerebellar ataxia, epilepsy, with or without cherry red spots, and[pediatricneurosciences.com] Cerebellar Ataxia Apca Ataxia, Episodic, With Nystagmus Ataxia, Familial Paroxysmal Cacna1a-Related Episodic Ataxia Type 2 Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive[ukgtn.nhs.uk]

  • Familial Recurrent Peripheral Facial Palsy

    jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras[orpha.net] ataxia Autosomal dominant cerebellar ataxia type I Autosomal dominant cerebellar ataxia type II Autosomal dominant cerebellar ataxia type III Autosomal dominant cerebellar[se-atlas.de] Screening ANO10 mutations in a Japanese cohorot of cerebellar ataxia.[tmd.ac.jp]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    Hyperbiliverdinemia, 614156 (3) BLVRB G:600941 . . BLZF1 G:608692 . . BMF G:606266 . . BMI1 G:164831 . . BMIQ1 P:606641 . . BMIQ2 P:606643 . . BMIQ3 P:607446 . .[usegalaxy.org] ataxia Dubin-Johnson syndrome Early-onset autosomal dominant Alzheimer disease Hereditary cerebral hemorrhage with amyloidosis, Arctic type Hereditary cerebral hemorrhage[csbg.cnb.csic.es] Ataxia Migraine, Sporadic Hemiplegic with Progressive Cerebellar Ataxia Mitochondrial Complex 1 Deficiency Mitochondrial Cytochrome c Oxidase Deficiency Mitochondrial DNA[sequencing.com]

  • Limb-Girdle Muscular Dystrophy Type 1H

    jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras[orpha.net] ataxia type 1 [ ] Autosomal dominant cerebellar ataxia type 3 [ ] Autosomal dominant cerebellar ataxia type 4 [ ] Autosomal dominant cerebellar ataxia type I [ ] Autosomal[wikicure.wikia.com] ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.[mendelian.co]

  • Intestinal Pseudo-Obstruction - Patent Ductus Arteriosus - Natal Teeth

    […] hsa04975 hsa04977 ] H01474 Acquired generalized lipodystrophy H01475 Lipodystrophy H01909 Hypoinsulinemic hypoglycemia with hemihypertrophy [PATH: hsa04150 hsa04151 ] H01936 Hyperbiliverdinemia[genome.jp] […] agenesis * Cerebellar ataxia * Cerebellar ataxia ectodermal dysplasia * Cerebellar ataxia infantile with progressive external ophthalmoplegia * Cerebellar ataxia, areflexia[medicalgeek.com] (SCA) [PATH: hsa04730 hsa03008 ] H01478 Machado-Joseph disease [PATH: hsa04141 ] H01038 Cerebellar ataxia cayman type H01170 Autosomal recessive spastic ataxia of Charlevoix-Saguenay[genome.jp]

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