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21 Possible Causes for Abnormal Corticomedullary Differentiation, Cerebellar Sign, female gonadal dysgenesis

Did you mean: Abnormal Corticomedullary Differentiation, Cerebellar Sign, female, gonadal dysgenesis

  • Ataxia Telangiectasia

    Neurologic evaluation revealed minimal hypotonia and wide-based gait, without other signs of cerebellar dysfunction.[] Certain endocrine abnormalities (eg, gonadal dysgenesis, testicular atrophy, diabetes mellitus) may occur.[] Cellular immunity can also be affected in A-T: abnormal development of the thymus, with absence of Hassall's corpuscles and corticomedullary differentiation, impaired delayed[]

  • Congenital Hypothyroidism without Goiter

    dysgenesis Enlarged kidney Aniridia Male pseudohermaphroditism Gonadoblastoma Ambiguous genitalia, male Diffuse mesangial sclerosis Ambiguous genitalia, female Prolonged[] syndrome: relation to hormone replacement therapy and karyotype‏ HH Elsedfy, RT Hamza, MH Farghaly, MS Ghazy ‏ Journal of Pediatric Endocrinology and Metabolism 25 (5-6),[] Dysgenesis, XY Type, with Associated Anomalies Gordon Syndrome Gorlin Chaudhry Moss Syndrome Grant Syndrome Growth Deficiency and Mental Retardation with Facial Dysmorphism[]

  • Waters-West Syndrome

    Nephronophthisis Highly arched eyebrow Prominent nasal bridge Molar tooth sign on MRI Retinopathy Aplasia/Hypoplasia of the cerebellum Polydactyly Sparse hair Congenital[] Turner syndrome: Turner syndrome, Macro, autopsy (73731) Turner syndrome, Macro, autopsy (73732) Turner syndrome, Macro, autopsy (73733) Turner syndrome, Macro, autopsy ([] […] atrophy Adrenal insufficiency Absence of renal corticomedullary differentiation Hemolytic anemia Ptosis Lethargy Pachygyria Heterotopia Decreased liver function Aspiration[]

  • Senior-Løken Syndrome

    dysgenesis NR0B1 300473 2-4 gonadal dysgenesis NR0B1 300473 2-4 NR5A1 480000 2-4 sex differentiation - SRY 480000 2-4 SRY 480000 2-4 Shaheen syndrome COG6 606977 2-4 Short[] signs.[] Absence of renal corticomedullary differentiation Short proximal phalanx of finger Vascular ring Aplasia of the middle phalanx of the hand Pyelonephritis Frontal upsweep[]

  • Meckel Syndrome

    sign, hypotonia, developmental delay.[] Individuals with MGS may also exhibit microphthalmia, cleft lip, micrognathia, liver fibrosis, gonadal dysgenesis, and congenital cardiovascular malformations such as aortic[] […] appears to be failed interaction of the metanephric duct and renal blastema; the kidneys, therefore, show little corticomedullary differentiation, and the nephrons are severely[]

  • Kaufman Oculocerebrofacial Syndrome

    dysgenesis 46,XY partial gonadal dysgenesis AA amyloidosis AGel amyloidosis AL amyloidosis ATTRV122I amyloidosis ATTRV30M amyloidosis Adult hepatocellular carcinoma Aicardi-Goutières[] Entries on cerebellar diseases, peripheral neuropathies, various dementias, diagnostic tests (both clinical and laboratory), forms of cerebral edema, dissociative signs and[] differentiation Short proximal phalanx of finger Aplasia of the middle phalanx of the hand Accessory oral frenulum Pyelonephritis Frontal upsweep of hair Delayed eruption[]

  • Posterior Fusion of Lumbosacral Vertebrae-Blepharoptosis Syndrome

    Vascular disorders Cerebellar hemorrhage may occur with high blood pressure, causing sudden headache, neck stiffness, and cerebellar signs, often with evidence of compression[] , 45,X/46,XX or XY Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome Q96.8 Other variants of Turner's syndrome Q96.9 Turner's syndrome, unspecified Q97[] corticomedullary differentiation Occipital meningocele Dilated fourth ventricle Hepatic steatosis Tubulointerstitial fibrosis Tubular atrophy Undetectable electroretinogram[]

  • Nephronophthisis 16

    dysgenesis ) GnRHR ( Gonadotropin-releasing hormone insensitivity ) EDNRB ( ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2 ) AVPR2 ( Nephrogenic diabetes[] (C) Axial magnetic resonance image of a child with Joubert syndrome showing the typical cerebellar vermis hypoplasia, resulting in a positive molar tooth sign.[] Renal corticomedullary cysts (HP:0000108) ........ Abnormal renal corticomedullary differentiation (HP:0005932) ...................[]

  • Fanconi Renotubular Syndrome

    dysgenesis, trisomy X * Thymus in DiGeorge syndrome * Labia majora in popliteal pterygium syndrome * Corpus callosum, connecting the two sides of the brain, in Agenesis of[] The brain computed tomography scan was used to identify abnormal lesions affecting certain areas of the brain - this procedure revealed signs of generalized cerebral and cerebellar[] Abdominal ultrasound showed kidneys measuring 146 mm with preserved corticomedullary differentiation and no signs of hydronephrosis.[]

  • Bangstad Syndrome

    Capillary malformation Sleep disturbance Loss of speech Limb dystonia Brisk reflexes Tetraparesis Status epilepticus Neuronal loss in central nervous system Abnormal pyramidal sign[] syndrome Kaynak: Triangular face dwarfism : mulibrey nanism.[] Ultrasonography (upper image) shows normal appearance of the left kidney with regular corticomedullary differentiation and size.[]

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