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Results 1 - 10 of 95 for Terminal
  1. Terminal osseous dysplasia 
    Terminal osseous dysplasia is a disorder primarily involving skeletal abnormalities and certain skin changes. It is a ... in the spectrum has all of these features.Terminal osseous dysplasia occurs only in females; males with ...
    https://medlineplus.gov/.../condition/terminal-osseous-dysplasia - Genetics
  2. MN1 C-terminal truncation syndrome 
    MN1 C-terminal truncation (MCTT) syndrome is a condition characterized by intellectual disability, developmental delay, distinctive facial features, and brain abnormalities. ...
    https://medlineplus.gov/.../mn1-c-terminal-truncation-syndrome - Genetics
  3. CTDP1 gene 
    ... provides instructions for making a protein called carboxy-terminal domain phosphatase 1. This protein helps regulate the ... instructions are pieced together to produce the carboxy-terminal domain phosphatase 1 protein. The altered instructions introduce ...
    https://medlineplus.gov/genetics/gene/ctdp1 - Genetics
  4. UCHL1 gene 
    ... instructions for making an enzyme called ubiquitin carboxyl-terminal esterase L1. This enzyme is found in nerve cells throughout the brain. Ubiquitin carboxyl-terminal esterase L1 is probably involved in the cell ...
    https://medlineplus.gov/genetics/gene/uchl1 - Genetics
  5. BAP1 gene 
    ... instructions for making a protein called ubiquitin carboxyl-terminal hydrolase BAP1 (shortened to BAP1). This protein functions ... described above). BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) cerebral protein 6 cerebral protein-13 HUCEP- ...
    https://medlineplus.gov/genetics/gene/bap1 - Genetics
  6. Jacobsen syndrome 
    ... 11, Jacobsen syndrome is also known as 11q terminal deletion disorder.The signs and symptoms of Jacobsen ... disorder. 11q deletion disorder 11q deletion syndrome 11q terminal deletion disorder 11q- deletion syndrome 11q23 deletion disorder ...
    https://medlineplus.gov/genetics/condition/jacobsen-syndrome - Genetics
  7. Adams-Oliver syndrome 
    ... scalp, and skull AOS Aplasia cutis congenita with terminal transverse limb defects Congenital scalp defects with distal ... of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am J Med Genet A. ...
    https://medlineplus.gov/genetics/condition/adams-oliver-syndrome - Genetics
  8. EFHC1 gene 
    ... About This Health Condition EF-hand domain (C-terminal) containing 1 EF-hand domain-containing protein 1 ... Tests of EFHC1 PubMed EF-HAND DOMAIN (C-TERMINAL)-CONTAINING PROTEIN 1; EFHC1 NCBI Gene ClinVar Katano ...
    https://medlineplus.gov/genetics/gene/efhc1 - Genetics
  9. 10q26 deletion syndrome 
    ... Distal monosomy 10q Monosomy 10qter Telomeric deletion 10 Terminal chromosome 10q26 deletion syndrome Genetic Testing Registry: Distal ...
    https://medlineplus.gov/genetics/condition/10q26-deletion-syndrome - Genetics
  10. NFU1 gene 
    ... isoform 3 NFU1_HUMAN NifU NifU-like C-terminal domain containing NIFUC Tests of NFU1 PubMed NFU1 ...
    https://medlineplus.gov/genetics/gene/nfu1 - Genetics
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