Create issue ticket

368 Possible Causes for Absent / Hypoplastic Corpus Callosum, High-Arched Palate (61%)

Did you mean: Absent / Hypoplastic Corpus Callosum, High-Arched Palate (61, )

  • Zellweger Syndrome

    palate 50% (4/8) 95% (35/37) present abnormal ears 50% (4/8) 98% (39/40) present high forehead present 97% (58/60) present neonatal seizures no 92% (56/61) 95% (36/38) neuronal[dx.doi.org] […] mental retardation 86% (6/7) 100% (45/45) yes short upturned nose with low nasal bridge 75% (6/8) 100% (23/23) present micrognathia 63% (5/8) 100% (18/18) present Highly arched[dx.doi.org]

  • Acrocallosal Syndrome

    hypoplastic corpus callosum associated with MED[ 10 ], subsequently assigned OMIM entry (%607131).[ojrd.biomedcentral.com] The affected family members showed macrocephaly, an absent or hypoplastic corpus callosum and facial dysmorphism, but no polydactyly and only mild or absent intellectual disability[karger.com] […] or hypoplastic corpus callosum mental retardation and dysmorphic features Exstrophy of the bladder Familial hemiplegic migraine type 2 Spondyloepimetaphyseal dysplasia with[checkrare.com]

    Missing: High-Arched Palate (61%)
  • Miller Dieker Syndrome

    From Wikidata Jump to navigation Jump to search A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients. Miller-Dieker syndrome MDS Miller-Dieker lissencephaly syndrome Telomeric deletion[…][wikidata.org]

    Missing: High-Arched Palate (61%)
  • Stargardt Macular Degeneration

    Home Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features Home Stargardt Macular Degeneration Absent or Hypoplastic[xpertdox.com] Corpus Callosum Mental Retardation and Dysmorphic Features Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features[xpertdox.com] Yes Following specialists treat Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features.[xpertdox.com]

    Missing: High-Arched Palate (61%)
  • Moebius Syndrome

    palate (61%) tongue hypoplasia (77%), teeth defects (37%) Limb malformations Syndactyly, oligodactyly, brachydactyly, arthrogryposis, absent trapezius or pectoral muscles[patient.info] 2 ] Associated abnormalities [ 1 ] Orofacial dysmorphism Micrognathia (64% of patients), ocular hypertelorism (25%), epicanthal folds (89%), external ear defects (47%), high-arched[patient.info]

    Missing: Absent / Hypoplastic Corpus Callosum
  • Tarsal Tunnel Syndrome

    MRI may show absent or hypoplastic corpus callosum, or cortical atrophy with ventriculomegaly. Mild-to-moderate mental deficiency with hypotonia.[accessanesthesiology.mhmedical.com]

    Missing: High-Arched Palate (61%)
  • Solid Ovarian Teratoma

    OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES Gomez Lopez Hernandez Syndrome Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy Granddad Syndrome[rgd.mcw.edu] […] or hypoplastic corpus callosum mental retardation and dysmorphic features Status epilepticus Steatocystoma multiplex Steatocystoma multiplex with natal teeth Steinfeld syndrome[personalizedcause.com] Fryns Macrocephaly Fryns Syndrome Garret Tripp Syndrome Geleophysic Dysplasia Giacheti Syndrome Gingival Fibromatosis with Distinctive Facies GLOBAL DEVELOPMENTAL DELAY, ABSENT[rgd.mcw.edu]

    Missing: High-Arched Palate (61%)
  • Psychosomatic Disorder

    OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES Gomez Lopez Hernandez Syndrome Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy Granddad Syndrome[rgd.mcw.edu] […] or hypoplastic corpus callosum mental retardation and dysmorphic features Status epilepticus Steatocystoma multiplex Steatocystoma multiplex with natal teeth Steinfeld syndrome[personalizedcause.com] Fryns Macrocephaly Fryns Syndrome Garret Tripp Syndrome Geleophysic Dysplasia Giacheti Syndrome Gingival Fibromatosis with Distinctive Facies GLOBAL DEVELOPMENTAL DELAY, ABSENT[rgd.mcw.edu]

    Missing: High-Arched Palate (61%)
  • Cervical Radiculitis

    OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor GLUT1 Deficiency Syndrome GLYCOSYLPHOSPHATIDYLINOSITOL[rgd.mcw.edu] Syndrome Gilles de la Tourette syndrome Gillespie syndrome Gingival Fibromatosis with Hypertrichosis and Mental Retardation Gitelman syndrome GLOBAL DEVELOPMENTAL DELAY, ABSENT[rgd.mcw.edu]

    Missing: High-Arched Palate (61%)
  • Kaufman Oculocerebrofacial Syndrome

    Structural central nervous system abnormalities include absent or hypoplastic corpus callosum; Chiari 1 malformation has been reported in one individual.[ncbi.nlm.nih.gov]

    Missing: High-Arched Palate (61%)

Further symptoms