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Results 51 - 60 of 60 for Developmental defect of the eye
  1. KBG syndrome 
    ... skull (brachycephaly), a triangular face shape, widely spaced eyes (hypertelorism), wide eyebrows that may grow together in ... KBG syndrome include hearing loss, seizures, and heart defects. ... lead to developmental delay and intellectual disability in KBG syndrome. However, ...
    https://medlineplus.gov/genetics/condition/kbg-syndrome - Genetics
  2. GLUT1 deficiency syndrome 
    ... first sign of the disorder may be involuntary eye movements that are rapid and irregular. Babies with ... not have seizures, but they may still have developmental delay and intellectual ... transport defect, blood-brain barrier Glucose transporter protein syndrome Glucose ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
  3. Peroxisomal acyl-CoA oxidase deficiency 
    ... may have unusual facial features, including widely spaced eyes (hypertelorism), a low nasal bridge, and low-set ... they experience a gradual loss of these skills (developmental regression), usually beginning between ... PT. Clinical consequences of defects in peroxisomal beta-oxidation. Biochem Soc Trans. 2001 ...
    https://medlineplus.gov/.../peroxisomal-acyl-coa-oxidase-deficiency - Genetics
  4. Saethre-Chotzen syndrome 
    ... low frontal hairline, droopy eyelids (ptosis), widely spaced eyes, and a broad nasal bridge. One side of ... the spine (the vertebra), hearing loss, and heart defects.Robinow-Sorauf syndrome is ... developmental delay, and learning difficulties. These features are typically ...
    https://medlineplus.gov/genetics/condition/saethre-chotzen-syndrome - Genetics
  5. Miller syndrome 
    ... breathing problems.People with Miller syndrome often have eyes that slant downward, eyelids that turn out so ... lower legs. People with Miller syndrome sometimes have defects in other bones, such as the ribs or ... Sangiorgi E, Neri G. Limb anomalies: Developmental and evolutionary aspects. Am J Med Genet. 2002 ...
    https://medlineplus.gov/genetics/condition/miller-syndrome - Genetics
  6. Homocystinuria 
    ... of the lens at the front of the eye, a higher risk of blood clotting disorders, and ... other skeletal abnormalities. Some affected individuals also have developmental delay and ... D, Rosenblatt DS. Inherited defects of cobalamin metabolism. Vitam Horm. 2022;119:355- ...
    https://medlineplus.gov/genetics/condition/homocystinuria - Genetics
  7. Myotonic dystrophy 
    ... dystrophy include clouding of the lens of the eye (cataracts) and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). Some affected individuals develop a ... Dystrophy and Developmental Regulation of RNA Processing. Compr Physiol. 2018 Mar ...
    https://medlineplus.gov/genetics/condition/myotonic-dystrophy - Genetics
  8. Fumarase deficiency 
    ... set ears, a small jaw (micrognathia), widely spaced eyes (ocular hypertelorism), and a depressed nasal bridge. An ...
    https://medlineplus.gov/genetics/condition/fumarase-deficiency - Genetics
  9. 10q26 deletion syndrome 
    ... size (microcephaly). Many affected individuals have widely spaced eyes (hypertelorism) that do not look in the same ...
    https://medlineplus.gov/genetics/condition/10q26-deletion-syndrome - Genetics
  10. DOLK-congenital disorder of glycosylation 
    ... distinctive facial features, kidney disease, hormonal abnormalities, or eye problems.Individuals with DOLK-CDG typically do not ...
    https://medlineplus.gov/...dolk-congenital-disorder-of-glycosylation - Genetics
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