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Results 31 - 38 of 38 for Absent lanugo
  1. Lamellar ichthyosis 
    ... TGM1 gene mutations lead to severely reduced or absent enzyme production, which prevents the formation of the ...
    https://medlineplus.gov/genetics/condition/lamellar-ichthyosis - Genetics
  2. DOORS syndrome 
    ... features of the disorder including deafness; short or absent nails (onychodystrophy); short fingers and toes (osteodystrophy); developmental ... inner ear, stereocilia project from certain cells called hair cells. The stereocilia bend in response to sound ...
    https://medlineplus.gov/genetics/condition/doors-syndrome - Genetics
  3. Horner syndrome 
    ... miosis) resulting in unequal pupil size (anisocoria), and absent sweating (anhidrosis) on the affected side of the ... MA, Ahn-Lee SS, Bernard BA. Unilateral straight hair and congenital horner syndrome. J Neuroophthalmol. 2012 Jun; ...
    https://medlineplus.gov/genetics/condition/horner-syndrome - Genetics
  4. Craniofrontonasal syndrome 
    ... Some affected individuals have brain abnormalities, such as absent or underdeveloped tissue connecting the left and right ... a low hairline in the back, or wiry hair. Craniofrontonasal syndrome is a very rare condition, although ...
    https://medlineplus.gov/.../condition/craniofrontonasal-syndrome - Genetics
  5. Polycystic ovary syndrome 
    ... the most common cause of infertility due to absent ovulation. The prevalence of polycystic ovary syndrome ranges ...
    https://medlineplus.gov/genetics/condition/polycystic-ovary-syndrome - Genetics
  6. Chromosome 8 
    ... typically have severe intellectual disability, a thin or absent corpus callosum, weak muscle tone (hypotonia), abnormal curvature ...
    https://medlineplus.gov/genetics/chromosome/8 - Genetics
  7. PNPLA6 gene 
    ... development (hypogonadotropic hypogonadism), which leads to delayed or absent puberty or other reproductive problems. As in Boucher- ... or other cognitive problems, eye abnormalities, impaired vision, hair abnormalities, hypogonadotropic hypogonadism, and reduced function of the ...
    https://medlineplus.gov/genetics/gene/pnpla6 - Genetics
  8. TERC gene 
    ... mutations that cause dyskeratosis congenita result in an absent or unstable hTR molecule; others change the way ... body such as cells of the nail beds, hair follicles, skin, lining of the mouth (oral mucosa), ...
    https://medlineplus.gov/genetics/gene/terc - Genetics
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