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Results 1 - 10 of 200 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. EYA1 gene 
    ... BOR/BO syndrome. BOP BOR EYA1_HUMAN eyes absent 1 eyes absent homolog 1 (Drosophila) eyes absent, Drosophila, homolog of, 1 Tests of EYA1 PubMed ... C. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and ...
    https://medlineplus.gov/genetics/gene/eya1 - Genetics
  3. ASH1L gene 
    ... this complex condition. More About This Health Condition absent small and homeotic disks protein 1 homolog ASH1 ash1 (absent, small, or homeotic)-like ASH1-like protein ASH1L1 ...
    https://medlineplus.gov/genetics/gene/ash1l - Genetics
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
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