[Acrocephalosyndactylia with multiple exostoses, bilateral parieto-occipital "encephaloceles", micropenis and severe mental retardation].
Lorenz
P
P
Institut für Klinische Genetik, Medizinischen Akademie, Carl Gustav Carus Dresden.
Hinkel
G K
GK
Rupprecht
E
E
D000015:Abnormalities, Multiple; D000168:Acrocephalosyndactylia / Q000473:pathology*; D004677:Encephalocele / Q000000981:diagnostic imaging*; D005097:Exostoses, Multiple Hereditary / Q000000981:diagnostic imaging*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D010413:Penis / Q000002:abnormalities*; D011859:Radiography; D013577:Syndrome
Akrozephalosyndaktylie mit multiplen Exostosen, beidseitigen parietookzipitalen "Enzephalozelen", Mikropenis und schwerer geistiger Behinderung.