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Hypertelorism

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Treatments for Smith-Lemli-Opitz Syndrome and Other Disorders of Cholesterol Biosynthesis by nih.gov Description of Invention: This technology provides methods for treating Smith-Lemli-Opitz Syndrome and other disorders of cholesterol biosynthesis. Smith-Lemli-Opitz Syndrome (SLOS) is an autosomal recessive dis
Genetics Home Reference: LEOPARD syndrome by nih.gov electrical heart activity), ocular hypertelorism (widely spaced eyes), pulmonary stenosis (narrowing... syndrome can have a distinctive facial appearance. In addition to ocular hypertelorism, affected...
Genetics Home Reference: Schinzel-Giedion syndrome by nih.gov a large or bulging forehead; wide-set eyes (ocular hypertelorism); a short, upturned nose; and a wide...  ; distal  ; exon  ; gene  ; genitals  ; heart valve  ; hypertelorism  ; hypertrichosis  ; hypoplasia...
Genetics Home Reference: craniofacial-deafness-hand syndrome by nih.gov . Individuals with this condition typically also have widely spaced eyes (ocular hypertelorism), narrowed...  ; embryo  ; embryonic  ; gene  ; hypertelorism  ; joint  ; malformation  ; mutation  ; neural crest...
Genetics Home Reference: Baraitser-Winter syndrome by nih.gov features can include widely spaced eyes (hypertelorism), large eyelid openings, droopy eyelids (ptosis... iris coloboma with ptosis, hypertelorism, and mental retardation For more information...
Genetics Home Reference: Fryns syndrome by nih.gov eyes (hypertelorism), a broad and flat nasal bridge, a thick nasal tip, a wide space between the nose...  ; hypertelorism  ; hypoplasia  ; incidence  ; intestine  ; kidney  ; macrostomia  ; micrognathia...
Genetics Home Reference: rhizomelic chondrodysplasia punctata by nih.gov . These include a prominent forehead, widely set eyes (hypertelorism), a sunken appearance of the middle...  ; hypertelorism  ; infection  ; joint  ; lipid  ; molecule  ; mutation  ; nervous system  ; peroxisomes...
Genetics Home Reference: Freeman-Sheldon syndrome by nih.gov . These may include widely spaced eyes (hypertelorism), deep-set eyes, outside corners of the eyes that point downward...  ; fever  ; gene  ; hypertelorism  ; hyperthermia  ; hypoplasia  ; inheritance  ; inheritance pattern...
Genetics Home Reference: Kleefstra syndrome by nih.gov (hypertelorism), a sunken appearance of the middle of the face (midface hypoplasia), nostrils that open...  ; deletion  ; developmental delay  ; DNA  ; egg  ; enzyme  ; gene  ; histone  ; hypertelorism...
Genetics Home Reference: Manitoba oculotrichoanal syndrome by nih.gov (hypertelorism). They may also have other eye abnormalities including small eyes (microphthalmia), a notched or...  ; epithelial  ; gene  ; hernia  ; hypertelorism  ; incidence  ; kidney  ; malformation  ; microphthalmia...

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