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192 Possible Causes for Abetalipoproteinemia, Midline Defects

  • Scoliosis

    Abstract Cantrell's pentalogy (CP) is a rare syndrome characterized by defects in the lower sternum with ectopia cordis, anterior diaphragm defects, midline supraumbilical[ncbi.nlm.nih.gov] The location is defined by the vertebra that is most deviated and rotated from midline, called the apical vertebra.[symptoma.com] […] abdominal wall defects, defects in the diaphragmatic pericardium, and congenital heart disease.[ncbi.nlm.nih.gov]

  • Mental Retardation

    Further studies will explore the specific mechanisms whereby PHF8 alterations lead to mental retardation and midline defects.[ncbi.nlm.nih.gov] The association of PHF8 with mental retardation and midline defects highlights the importance of this process, specifically during brain development and midline formation.[doi.org]

  • Ataxia

    […] lesion Signs or Function Posterior (Flocculo-nodular lobe; Archicerebellum) Eye movement disorders: Nystagmus; Vestibulo-ocular reflex (VOR) Postural and gait dysfunction Midline[neuromuscular.wustl.edu] Differential diagnosis Differential diagnosis mainly includes Friedreich ataxia, sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO) and abetalipoproteinemia[orpha.net] (Vermis; paleocerebellum)Truncal & gait ataxia Hemisphere (Neocerebellum)Limb ataxia: Dysmetria, Dysdiadochokinesis, "Intention" tremor Dysarthria Hypotonia Afferent defect[neuromuscular.wustl.edu]

  • Melhem-Fahl Syndrome

    […] cleft of lower lip Midline defects autosomal type Midline defects recessive type Midline developmental field defects Midline field defects Midline lethal granuloma Mietens[bioreference.net] Hypokalemic alkalosis with hypercalcinuria Hypokalemic periodic paralysis Hypokalemic periodic paralysis type 1 Hypokalemic sensory overstimulation Hypoketonemic hypoglycemia Hypolipoproteinemia[sosu.us] […] type Midline defects recessive type Midline developmental field defects Mievis Verellen Dumoulin syndrome Milner Khallouf Gibson syndrome Minkowski-Chauffard disease Minoxidil[mindmappedia.com]

  • Mononen-Karnes-Senac Syndrome

    […] type Midline defects recessive type Midline developmental field defects Mievis Verellen Dumoulin syndrome Milner Khallouf Gibson syndrome Minkowski-Chauffard disease Minoxidil[mindmappedia.com] Microsomal triglyceride transfer protein deficiency disease - See Abetalipoproteinemia Microsomia hemifacial radial defects Microspherophakia and/or megalocornea, with ectopia[herenciageneticayenfermedad.blogspot.com] […] cleft of lower lip Midline defects autosomal type Midline defects recessive type Midline developmental field defects Midline field defects Midline lethal granuloma Mietens[thefullwiki.org]

  • Malignant Hyperthermia-Arthrogryposis-Torticollis Syndrome

    […] cleft of lower lip Midline defects autosomal type Midline defects recessive type Midline developmental field defects Midline field defects Midline lethal granuloma Mietens[thefullwiki.org] Hypokalemic alkalosis with hypercalcinuria Hypokalemic periodic paralysis Hypokalemic periodic paralysis type 1 Hypokalemic sensory overstimulation Hypoketonemic hypoglycemia Hypolipoproteinemia[sosu.us] Microphthalmia microtia fetal akinesia Microphthalmia with limb anomalies Microphthalmos, microcornea, and sclerocornea Microscopic polyangiitis Microsomia hemifacial radial defects[en.wikipedia.org]

  • Myelocerebellar Disorder

    […] cleft of lower lip * Midline defects autosomal type * Midline defects recessive type * Midline developmental field defects * Midline field defects * Midline lethal granuloma[en.academic.ru] ARX-related epileptic encephalopathy ATP13A2-related juvenile neuronal ceroid lipofuscinosis ATR-X-related syndrome ATTRV30M amyloidosis Aarskog-Scott syndrome Aase-Smith syndrome Abetalipoproteinemia[se-atlas.de] Hypokalemic alkalosis with hypercalcinuria Hypokalemic periodic paralysis Hypokalemic periodic paralysis type 1 Hypokalemic sensory overstimulation Hypoketonemic hypoglycemia Hypolipoproteinemia[sosu.us]

  • Cerebellar Ataxia

    […] lesion Signs or Function Posterior (Flocculo-nodular lobe; Archicerebellum) Eye movement disorders: Nystagmus; Vestibulo-ocular reflex (VOR) Postural and gait dysfunction Midline[neuromuscular.wustl.edu] Autosomal recessive ataxias include Friedreich ataxia (the most prevalent), ataxia-telangiectasia, abetalipoproteinemia, ataxia with isolated vitamin E deficiency, and cerebrotendinous[merckmanuals.com] If lesions occur in the dorsal spinal cord, the differential diagnosis should include Friedrich ataxia, ataxia with vitamin E deficiency, abetalipoproteinemia, and posterior[ajnr.org]

  • X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome

    […] cleft of lower lip Midline defects autosomal type Midline defects recessive type Midline developmental field defects Midline field defects Midline lethal granuloma Mietens[thefullwiki.org] ARX-related epileptic encephalopathy ATP13A2-related juvenile neuronal ceroid lipofuscinosis ATR-X-related syndrome ATTRV30M amyloidosis Aarskog-Scott syndrome Aase-Smith syndrome Abetalipoproteinemia[se-atlas.de] Microphthalmia microtia fetal akinesia Microphthalmia, Lentz type Microphthalmia Microphthalmos, microcornea, and sclerocornea Microscopic polyangiitis Microsomia hemifacial radial defects[thefullwiki.org]

  • Familial Recurrent Peripheral Facial Palsy

    ARX-related epileptic encephalopathy ATP13A2-related juvenile neuronal ceroid lipofuscinosis ATR-X-related syndrome ATTRV30M amyloidosis Aarskog-Scott syndrome Aase-Smith syndrome Abetalipoproteinemia[se-atlas.de] […] syndrome Microphthalmia, Lenz type Microphthalmia-ankyloblepharon-intellectual disability syndrome Microphthalmia-brain atrophy syndrome Midline cerebral malformation Midline[se-atlas.de] Microcephaly-thin corpus callosum-intellectual disability syndrome Microform holoprosencephaly Microlissencephaly Microlissencephaly-micromelia syndrome Microphthalmia with linear skin defects[se-atlas.de]

Further symptoms