Corneal opacity, microphthalmia, mental retardation, microcephaly and generalized muscular spasticity associated with hyperglycinemia.
D000469:Alkaline Phosphatase / Q000097:blood; D002118:Calcium / Q000097:blood; D002547:Cerebral Palsy; D002875:Chromosomes / Q000032:analysis; D003241:Consanguinity; D003318:Corneal Opacity / Q000235:genetics*; D005260:Female; D005998:Glycine / Q000097:blood* / Q000652:urine; D006801:Humans; D008607:Intellectual Disability; D007457:Iodine Radioisotopes; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D008850:Microphthalmos / Q000235:genetics*; D009119:Muscle Contraction; D010375:Pedigree; D010758:Phosphorus / Q000097:blood; D012640:Seizures; D013577:Syndrome
D007457:Iodine Radioisotopes; D010758:Phosphorus; D000469:Alkaline Phosphatase; D002118:Calcium; D005998:Glycine