Matches in DBpedia 2014 for { ?s ?p Ablepharon macrostomia syndrome (AMS) is an extremely rare autosomal recessive genetic disorder characterized by malformations of the skull, skin, fingers and genitals. Affected individuals may also have malformations of the nipples and abdominal wall. Younger individuals might experience language difficulties, and in some instances mental retardation is known.. }
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- Ablepharon_macrostomia_syndrome abstract "Ablepharon macrostomia syndrome (AMS) is an extremely rare autosomal recessive genetic disorder characterized by malformations of the skull, skin, fingers and genitals. Affected individuals may also have malformations of the nipples and abdominal wall. Younger individuals might experience language difficulties, and in some instances mental retardation is known.".
- Ablepharon_macrostomia_syndrome comment "Ablepharon macrostomia syndrome (AMS) is an extremely rare autosomal recessive genetic disorder characterized by malformations of the skull, skin, fingers and genitals. Affected individuals may also have malformations of the nipples and abdominal wall. Younger individuals might experience language difficulties, and in some instances mental retardation is known.".