Craniosynostosis, agenesis of the corpus callosum, serve mental retardation, distinctive facies, camptodactyly, and hypogonadism.
Lin
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AE
Department of Medical Genetics, West Penn Hospital, Pittsburgh, Pennsylvania 15224.
Gettig
E
E
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D061085:Agenesis of Corpus Callosum; D002675:Child, Preschool; D003398:Craniosynostoses / Q000175:diagnosis*; D005145:Face / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis*; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability; D008297:Male; D013577:Syndrome