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221 Possible Causes for Absent Development, Absent / Hypoplastic Corpus Callosum

  • Zellweger Syndrome

    […] leading to seizures ; hearing and vision impairment; severe mental retardation and developmental delay; diminished or absent reflexes Liver: enlarged liver with impaired[verywell.com] Some developed icterus and bloody stool. Vast majority of children die within the first year of life. Those who survive have profound mental retardation.[en.wikibooks.org] Infants also develop a variety of neurological complications including frequent seizures, poor or absent reflexes, intellectual disability, and delays in reaching developmental[rarediseases.org]

  • Acrocallosal Syndrome

    This chapter describes an autosomal recessive condition affecting skeletal and uterine development.[oxfordmedicine.com] 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]

  • Kaufman Oculocerebrofacial Syndrome

    […] speech Absent speech development Lack of language development Lack of speech No speech development No speech or language development Nonverbal [ more ] 0001344 Anteverted[rarediseases.info.nih.gov] Structural central nervous system abnormalities include absent or hypoplastic corpus callosum; Chiari 1 malformation has been reported in one individual.[ncbi.nlm.nih.gov] Only two patients developed speech, which in both cases was limited.[docksci.com]

  • Roy-Maroteaux-Kremp Syndrome

    LANGUAGE Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements[rgd.mcw.edu] OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor GLUT1 Deficiency Syndrome GLYCOSYLPHOSPHATIDYLINOSITOL[rgd.mcw.edu] CALLOSUM NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT[rgd.mcw.edu]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    In such cases, there would be no evidence of muscle or nerve disease but muscle development in the limbs may be severely defective or absent (amyoplasia) [ Sells et al., 1996[clinicalgate.com] […] or hypoplastic corpus callosum mental retardation and dysmorphic features Exstrophy of the bladder Familial hemiplegic migraine type 2 Spondyloepimetaphyseal dysplasia with[checkrare.com] Sensory symptoms may be associated or not to distal sensory loss; tendon reflexes are diminished or absent, rarely retained.[neupsykey.com]

  • Lutembacher Syndrome

    1 Neuhauser Daly Magnelli Syndrome Neuhauser Eichner Opitz Syndrome Neuhauser Syndrome Neurocutaneous Syndromes NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT[rgd.mcw.edu] OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor GLUT1 Deficiency Syndrome GLYCOSYLPHOSPHATIDYLINOSITOL[rgd.mcw.edu] LANGUAGE Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES NEURODEVELOPMENTAL[rgd.mcw.edu]

  • CANOMAD Syndrome

    Foot ulcers, calluses and foot deformity develop. Distal leg muscle wasting and weakness, and absent ankle jerks develop later.[neuroweb.us] OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor GLUT1 Deficiency Syndrome GLYCOSYLPHOSPHATIDYLINOSITOL[rgd.mcw.edu] […] over at least 2 months; cranial nerves may be affected Absent or reduced tendon reflexes in all extremities Elevated cerebrospinal fluid protein with leukocyte count 10/mm3[slideshare.net]

  • Isolated optic nerve hypoplasia

    As a result, such brain structures may be absent, incompletely developed (hypoplastic), and/or malformed (dysplastic).[rarediseases.org] […] infundibulum, partial or complete absence of septum pellucidum and corpus callosum.[ijri.org] Bilateral microphthalmia, cleft lip/palate, corpus callosum defects, hippocampal defects, absent pineal gland 15 ATOH7 Transcription regulation gene that controls ocular[eyewiki.aao.org]

  • Salti-Salem Syndrome

    Both boys and girls change body proportions and their genitals develop and increase in size. These changes don't occur in SSS patients with absent puberty.[symptoma.com] […] or hypoplastic corpus callosum mental retardation and dysmorphic features Status epilepticus Steatocystoma multiplex Steatocystoma multiplex with natal teeth Steinfeld syndrome[personalizedcause.com] Figure 1: Clinical findings shows (a) ophiasis type of alopecia areata, (b) well-developed external genitalia and hypoplastic vagina Click here to view Figure 2: Ultrasonography[ijtrichology.com]

  • Frontonasal Dysplasia

    All had apparently normal psychomotor development.[ncbi.nlm.nih.gov] We describe a boy with frontonasal "dysplasia"; cerebral anomalies, including agenesis of corpus callosum and probable Dandy-Walker malformation (absent superior vermis, hypoplastic[ncbi.nlm.nih.gov] We have therefore observed combined clinical characteristics of: absent corpus callosum; cleft palate and lip; sphenoethmoidal encephalocele; and pituitary problems in association[bjo.bmj.com]

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