Aberrant melanosome maturation, Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal facial shape, Abnormality of blood and blood-forming tissues, Abnormality of cellular immune system, Abnormality of dental structure, Abnormality of dermal melanosomes, Abnormality of eye movement, Abnormality of granulocytes, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of immune system physiology, Abnormality of leukocytes, Abnormality of limb bone morphology, Abnormality of myeloid leukocytes, Abnormality of neutrophils, Abnormality of pelvic girdle bone morphology, Abnormality of skeletal morphology, Abnormality of skin morphology, Abnormality of skin pigmentation, Abnormality of skull size, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the acetabulum, Abnormality of the central nervous system, Abnormality of the cerebrum, Abnormality of the ear, Abnormality of the eye, Abnormality of the eyelid, Abnormality of the face, Abnormality of the forebrain, Abnormality of the gingiva, Abnormality of the head, Abnormality of the hip bone, Abnormality of the hip joint, Abnormality of the immune system, Abnormality of the integument, Abnormality of the joints of the lower limbs, Abnormality of the lip, Abnormality of the liver, Abnormality of the lower limb, Abnormality of the lymphatic system, Abnormality of the mouth, Abnormality of the nervous system, Abnormality of the ocular region, Abnormality of the oral cavity, Abnormality of the outer ear, Abnormality of the palpebral fissures, Abnormality of the periorbital region, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the skull, Abnormality of the spleen, Abnormality of the teeth, Abnormality of thrombocytes, Abnormality of upper lip, Abnormality of upper lip vermillion, Abnormality of vision, Abnormal joint morphology, Abnormal location of ears, Abnormal neutrophil cell number, Abnormal platelet count, Acetabular dysplasia, Age of onset, All, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebrum, Autosomal recessive inheritance, Behavioural/Psychiatric Abnormality, Carious teeth, Coarse facial features, Cognitive impairment, Congenital onset, Generalized abnormality of skin, Global developmental delay, Hepatomegaly, Heterogeneous, Hip dysplasia, Hypopigmentation of the skin, Intellectual disability, Intellectual disability, mild, Low-set ears, Microcephaly, Mode of inheritance, Morphological abnormality of the central nervous system, Motor delay, Neutropenia, Nystagmus, Onset, Onset and clinical course, Pallor, Partial albinism, Periodontitis, Phenotypic abnormality, Photophobia, Posteriorly rotated ears, Recurrent bacterial infections, Recurrent infections, Slanting of the palpebral fissure, Splenomegaly, Strabismus, Thin lips, Thin upper lip vermilion, Thrombocytopenia, Upslanted palpebral fissure, Visceromegaly, Visual impairment.