title: X-chromosomal recessive microcephaly with epilepsy, spastic tetraplegia and absent abdominal reflexes. New variety of "Paine syndrome"?
mesh_terms: D000009:Abdominal Muscles; D000015:Abnormalities, Multiple; D001176:Arthrogryposis; D002648:Child; D003878:Dermatoglyphics; D004827:Epilepsy / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D009128:Muscle Spasticity / Q000235:genetics; D010375:Pedigree; D011782:Quadriplegia / Q000235:genetics*; D012018:Reflex; D012020:Reflex, Abdominal; D000608:Renal Aminoacidurias; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013577:Syndrome