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162 Possible Causes for Delayed Acquisition of Motor Skills, High Inter- and Intrafamiliar Variability of Phenotype, Sensorineural Hearing Loss Associated with ELSTs

  • Von Hippel-Lindau Disease

    ) hearing loss, sensorineural, associated with elsts Genitourinary Kidneys: multiple renal cysts renal hemangioblastoma renal cell carcinoma (e.g., ) Genitourinary Internal[malacards.org] The majority of the patients had associated audiovestibular symptoms, including sensorineural hearing loss (84% of ears), tinnitus (73%), and vertigo (68%) that did not correlate[journal.frontiersin.org] Respiratory Lung: pulmonary hemangiomas Abdomen Pancreas: multiple pancreatic cysts pancreatic hemangioblastoma Head And Neck Ears: vertigo tinnitus endolymphatic sac tumors (elsts[malacards.org]

    Missing: Delayed Acquisition of Motor Skills
  • Partial Monosomy 18q

    Nuijten, Inge * ; Admiraal, Ronald † ; Van Buggenhout, Griet ‡ ; Cremers, Cor † ; Frijns, Jean-Pierre ‡ ; Smeets, Dominique * ; van Ravenswaaij-Arts, Conny * PEDIATRIC OTOLOGY Abstract Author Information Authors To study the occurrence of congenital aural atresia in patients with a deletion of the long arm of[…][journals.lww.com]

    Missing: Sensorineural Hearing Loss Associated with ELSTs
  • Déjerine-Sottas Disease

    acquisition of motor skills Mild loss of hearing Limitation in eye movements Reduced muscle tone This condition can be diagnosed from the symptoms as well as your child’s[kidbones.net] […] in acquisition of motor skills in childhood occasionally, limitation of eye movements or other eye problems occasionally, mild hearing loss How does Dejerine-Sottas Disease[mda.org.au] Occasionally there could be vision problems, hearing loss and delay in acquisition of motor skills in children. Treatment for this condition is symptomatic.[turmericforhealth.com]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Infantile-Onset Ascending Hereditary Spastic Paralysis

    Abstract We studied 15 patients, from 10 families, who presented with severe spastic paralysis with an infantile onset and an ascending progression. Spastic paraplegia began during the first 2 years of life and extended to upper limbs within the next few years. During the first decade of life, the disease progressed[…][ncbi.nlm.nih.gov]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Mowat-Wilson Syndrome

    The mental retardation, usually severe, was constant; the delay in the acquisition of motor skills was more variable (table 2).[doi.org]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Barth Syndrome

    acquisition of gross motor skills Exercise intolerance Muscle weakness Easily fatigued Chronic or recurrent diarrhea Feeding problems in infancy, "picky eating" in children[verywellhealth.com] […] of gross motor skills.[rarediseases.org] Barth syndrome is also associated with abnormally diminished muscle tone (hypotonia ), and muscle weakness (skeletal myopathy), that often leads to delays in the acquisition[medium.com]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Rigid Spine Syndrome

    Since delay of motor skill acquisition may be a presenting symptom of CMD, onset of manifestations before age two years may be a reasonable diagnostic criterion.[ncbi.nlm.nih.gov] Poor or decreased motor abilities, delay or arrest of motor milestones, and joint or spinal deformities are often the presenting features of CMD.[ncbi.nlm.nih.gov]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Charcot-Marie-Tooth Disease Type 4C
    Missing: Sensorineural Hearing Loss Associated with ELSTs
  • Muscular Dystrophy-Dystroglycanopathy Type C2

    Primary Outcome Measures : MRI scan for qualitative analysis of muscle involvement [ Time Frame: One MRI scan per subject (exam lasts approximately 60 min.) ] The MRI protocol include T1-weighted brain and whole body examination. Four cross-sectional slices at shoulder, lumbar back, thigh and calf are chosen for[…][clinicaltrials.gov]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Limb-Girdle Muscular Dystrophy Type 2Q

    Autosomal recessive limb-girdle muscular dystrophy-17 is characterized by early childhood onset of proximal muscle weakness and atrophy without skin involvement. One family has shown rapid progression of the disorder in adolescence (summary by Gundesli et al., 2010). For a discussion of genetic heterogeneity of[…][ncbi.nlm.nih.gov]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs