Intermediate form of ablepharon-macrostomia syndrome with CNS abnormalities.
Amor
D J
DJ
Savarirayan
R
R
D000015:Abnormalities, Multiple / Q000235:genetics*; D002490:Central Nervous System / Q000002:abnormalities*; D002871:Chromosome Banding; D002658:Developmental Disabilities / Q000235:genetics / Q000503:physiopathology*; D003937:Diagnosis, Differential; D004827:Epilepsy / Q000235:genetics; D005143:Eyelids / Q000002:abnormalities; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008265:Macrostomia / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D008297:Male