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615 Possible Causes for Severe Cerebellar Hypoplasia

  • Hoyeraal-Hreidarsson Syndrome

    Neurologically, the child was born with a severe microcephaly with primary cerebellar hypoplasia.[thieme-connect.com] He was diagnosed with Hoyeraal-Hreidarsson syndrome at age 6 years and had a complicated medical history including severe developmental delay, cerebellar hypoplasia, esophageal[ncbi.nlm.nih.gov] […] developmental delay, cerebellar hypoplasia, and bone marrow failure.[thieme-connect.com]

  • Spondylometaphyseal Dysplasia

    cerebellar hypoplasia.[ncbi.nlm.nih.gov] […] spondylometaphyseal dysplasia (SSMD) who presented with metaphyseal dysplasia, congenital atrioventricular block, simplified gyral pattern, hypogenesis of corpus callosum, and severe[ncbi.nlm.nih.gov]

  • Arnold-Chiari Malformation Type 1

    cerebellar hypoplasia without displacement of the cerebellum through the foramen magnum probably a variation of cerebellar hypoplasia Chiari V malformation absent cerebellum[radiopaedia.org] Chiari IV The most severe variant. Severe cerebellar hypoplasia without displacement of the cerebellum through the foramen magnum.[physio-pedia.com] Chiari IV has severe cerebellar hypoplasia without displacement of the cerebellum through the foramen magnum.[physio-pedia.com]

  • Nivelon-Nivelon-Mabille Syndrome

    Other reported features in the live sibling included eye anomalies, dysmorphic features, muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar[ncbi.nlm.nih.gov] , mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia.[orpha.net] A severe form of congenital dwarfism, general chondrodysplasia, severe microcephaly with cerebellar vermis hypoplasia, hypoplastic iris, and coloboma of the optic disc.[accessanesthesiology.mhmedical.com]

  • Familial Hypercholesterolemia

    Combined Immunodeficiency 2 X-LinkedMental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance 3 Xanthinuria, Type I 2 Xanthinuria, Type II 1 Xerocytosis[preventiongenetics.com] Infantile Nystagmus 1 X-Linked Lissencephaly 3 X-Linked Lissencephaly 2 6 X-Linked Periventricular Heterotopia 3 X-Linked Recessive Nephrolithiasis With Renal Failure 1 X-Linked Severe[preventiongenetics.com]

  • Congenital Merosin-Positive Muscular Dystrophy

    […] atrophy – severe cerebellar hypoplasia, poor muscle tone, delayed in motor milestones, lack of coordination in motive skills, difficulty speaking, involuntary movements and[mobilephysiotherapyclinic.in] At 1 year, MR imaging of the brain showed abnormal increased periventricular T2-signal, consistent with dysmyelination as well as pontocerebellar hypoplasia and several cerebellar[jhu.pure.elsevier.com] […] atrophy [2] severe cerebellar hypoplasia, poor muscle tone, delayed in motor milestones, lack of coordination in motive skills, difficulty speaking, involuntary movements[ipfs.io]

  • Arnold Chiari Malformation

    Chiari IV has severe cerebellar hypoplasia without displacement of the cerebellum through the foramen magnum.[physio-pedia.com] cerebellar hypoplasia without displacement of the cerebellum through the foramen magnum probably a variation of cerebellar hypoplasia Chiari V malformation absent cerebellum[radiopaedia.org] […] lumbosacral spinal myelomeningocele Chiari III malformation features similar to Chiari II but with an occipital and/or high cervical encephalocele Chiari IV malformation severe[radiopaedia.org]

  • Early Infantile Epileptic Encephalopathy Type 17

    Our data expand the clinical spectrum of CASK mutations to include OS with cerebellar hypoplasia and congenital anomalies at the most severe end.[ncbi.nlm.nih.gov] Both patients showed severe cerebellar hypoplasia along with other congenital anomalies such as micrognathia, a high arched palate, and finger anomalies.[ncbi.nlm.nih.gov] CASK mutations have been reported in patients with intellectual disability with microcephaly and pontocerebellar hypoplasia or congenital nystagmus, and those with FG syndrome[ncbi.nlm.nih.gov]

  • Lissencephaly

    The girl's brain magnetic resonance imaging (MRI) findings, including pachygyria and severe cerebellar hypoplasia, were identical to those seen with RELN point mutations.[ncbi.nlm.nih.gov] cerebellar hypoplasia (lissencephaly with cerebellar hypoplasia; LCH) or absence of the corpus callosum (lissencephaly with agenesis of the corpus callosum; LACC).[cafamily.org.uk] hypoplasia TUBA1A AD TUBB2B Lissencephaly with cerebellar hypoplasia, reelinopathy type Mild frontal lissencephaly w/severe cerebellar hypoplasia RELN AR VLDLR Cobblestone[ncbi.nlm.nih.gov]

  • Waisman Syndrome

    hypoplasia and mental retardation with or without quadrupedal locomotion 1 224050 VPS13B 8q22.2 Cohen syndrome 216550 VPS33B 15q26.1 Arthrogryposis, renal dysfunction, and[institutobernabeu.com] […] cholestasis 1 208085 WAS Xp11.23 Neutropenia, severe congenital, X-linked 300299 Thrombocytopenia, X-linked 313900 Thrombocytopenia, X-linked, intermittent 313900 Wiskott-Aldrich[institutobernabeu.com] 12q13.11 Osteoporosis, involutional 166710 Rickets, vitamin D-resistant, type IIA 277440 VIPAR 14q24.3 Arthrogryposis, renal dysfunction, and cholestasis 2 613404 VLDLR 9p24.2 Cerebellar[institutobernabeu.com]

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