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Results 1 - 10 of 124 for absent
  1. Thrombocytopenia-absent radius syndrome 
    Thrombocytopenia-absent radius (TAR) syndrome is characterized by the absence of a bone called the radius in each forearm ... is called the ulna, is sometimes underdeveloped or absent in one or both arms. TAR syndrome is ...
    https://medlineplus.gov/.../thrombocytopenia-absent-radius-syndrome - Genetics
  2. Kallmann syndrome 
    ... syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell.This ... of smell is either diminished (hyposmia) or completely absent (anosmia). This feature distinguishes Kallmann syndrome from most ...
    https://medlineplus.gov/genetics/condition/kallmann-syndrome - Genetics
  3. Genitopatellar syndrome 
    ... microcephaly) and structural brain abnormalities, including underdeveloped or absent tissue connecting the left and right halves of ... no history of the disorder in their family. Absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and ...
    https://medlineplus.gov/genetics/condition/genitopatellar-syndrome - Genetics
  4. RAPADILINO syndrome 
    ... The kneecaps (patellae) can also be underdeveloped or absent. Other features include an opening in the roof ... not show signs and symptoms of the condition. Absent thumbs, dislocated joints, long face with narrow palpebral ...
    https://medlineplus.gov/genetics/condition/rapadilino-syndrome - Genetics
  5. Meier-Gorlin syndrome 
    ... females with this condition can have sparse or absent underarm (axillary) hair.Additional features of Meier-Gorlin ... the condition. Ear, patella, short stature syndrome Microtia, absent patellae, micrognathia syndrome Genetic Testing Registry: Meier-Gorlin ...
    https://medlineplus.gov/genetics/condition/meier-gorlin-syndrome - Genetics
  6. Bare lymphocyte syndrome type II 
    ... class II-negative Severe combined immunodeficiency due to absent class II human leukocyte antigens Severe combined immunodeficiency, ...
    https://medlineplus.gov/.../bare-lymphocyte-syndrome-type-ii - Genetics
  7. Anonychia congenita 
    ... not show signs and symptoms of the condition. Absent nails Anonychia Aplastic nails Congenital absence of nails ...
    https://medlineplus.gov/genetics/condition/anonychia-congenita - Genetics
  8. Aniridia 
    ... no history of the disorder in their family. Absent iris Congenital aniridia Irideremia Genetic Testing Registry: Aniridia ...
    https://medlineplus.gov/genetics/condition/aniridia - Genetics
  9. X-linked infantile spinal muscular atrophy 
    ... and is characterized by severe muscle weakness and absent reflexes (areflexia). Affected children often have multiple joint ...
    https://medlineplus.gov/...-linked-infantile-spinal-muscular-atrophy - Genetics
  10. Congenital insensitivity to pain with anhidrosis 
    ... to feel pain and temperature, and decreased or absent sweating (anhidrosis). This condition is also known as ...
    https://medlineplus.gov/...tal-insensitivity-to-pain-with-anhidrosis - Genetics
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