Hypopigmentation of the fundi associated with Pallister-Killian syndrome.
Birch
M
M
St Paul's Eye Unit, Royal Liverpool University Hospital, United Kingdom.
Patterson
A
A
Fryer
A
A
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations; D002881:Chromosomes, Human, Pair 12; D004596:Electroretinography; D005147:Facial Bones / Q000002:abnormalities; D005654:Fundus Oculi; D006130:Growth Disorders / Q000235:genetics; D006197:Hair / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009030:Mosaicism; D009123:Muscle Hypotonia / Q000235:genetics; D009759:Nystagmus, Pathologic / Q000235:genetics; D012160:Retina / Q000473:pathology; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D012886:Skull / Q000002:abnormalities; D013577:Syndrome