spots Fraser’s syndrome (219000) Cryptophthalmos, malformed lacrimal ducts, hypertelorism, blindness Glucose transport defect (606777) Abnormal paroxysmal eye movements;
[clinicalgate.com]
acute lymphoblastic (ALL) FLI1, LHX4+del Leukemia, acute lymphocytic FLI1, LHX4+del Leukemia, acute myelogenous (AML) TRIP11, JAK2, CREBBP+del, IDH1, NSD1 (=SOTOS)+del,
[uniklinik-freiburg.de]
spots, congenital cataracts - protruding tongue - simian crease - small ears - holoprosencephaly, microcephaly, mid scalp lesions - low set ears - microphthalmia - polydactyly
[quizlet.com]