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Results 1 - 10 of 24 for Dysmorphism
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  1. Congenital cataracts, facial dysmorphism, and neuropathy 
    Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) is a rare disorder that affects several parts of the body. It is characterized by a ...
    https://medlineplus.gov/...taracts-facial-dysmorphism-and-neuropathy - Genetics
  2. KCNK9 imprinting syndrome 
    ... disorder in their family. Birk-Barel mental retardation dysmorphism syndrome Birk-Barel syndrome Intellectual disability, Birk-Barel type Intellectual disability-hypotonia-facial dysmorphism syndrome Mental retardation with hypotonia and facial dysmorphism ...
    https://medlineplus.gov/genetics/condition/kcnk9-imprinting-syndrome - Genetics
  3. MED13L syndrome 
    ... Rauch syndrome ASRAS Cardiac anomalies-developmental delay-facial dysmorphism syndrome Developmental delay-facial dysmorphism syndrome due to MED13L deficiency Intellectual disability and ...
    https://medlineplus.gov/genetics/condition/med13l-syndrome - Genetics
  4. Genitopatellar syndrome 
    ... family. Absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation GPS Genetic Testing Registry: Genitopatellar ...
    https://medlineplus.gov/genetics/condition/genitopatellar-syndrome - Genetics
  5. Burn-McKeown syndrome 
    ... BMKS Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome Oculo-oto-facial dysplasia Oculootofacial dysplasia OOFD ... Registry: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome Burn-McKeown syndrome National Organization for Rare ...
    https://medlineplus.gov/genetics/condition/burn-mckeown-syndrome - Genetics
  6. Cerebro-facio-thoracic dysplasia 
    ... of the condition. Cerebrofaciothoracic dysplasia CFSMR CFTD Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Pascual-Castroviejo ...
    https://medlineplus.gov/.../cerebro-facio-thoracic-dysplasia - Genetics
  7. Char syndrome 
    ... in their family. Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits Genetic Testing Registry: Char ...
    https://medlineplus.gov/genetics/condition/char-syndrome - Genetics
  8. Smith-Kingsmore syndrome 
    ... Macrocephaly, seizures, intellectual disability, umbilical hernia, and facial dysmorphism Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome ...
    https://medlineplus.gov/genetics/condition/smith-kingsmore-syndrome - Genetics
  9. 17q12 deletion syndrome 
    17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell. The deletion occurs on the long (q) arm ...
    https://medlineplus.gov/genetics/condition/17q12-deletion-syndrome - Genetics
  10. CTDP1 gene 
    ... L, Chamova T. CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy. 2010 Mar 2 [updated 2022 Oct ... Citation on PubMed Kalaydjieva L. Congenital cataracts-facial dysmorphism-neuropathy. Orphanet J Rare Dis. 2006 Aug 29; ...
    https://medlineplus.gov/genetics/gene/ctdp1 - Genetics
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