Abnormality of the mouth, Abnormality of the upper urinary tract, Absent eyebrow, Absent eyelashes, Absent nipple, Aged leonine appearance, Ambiguous genitalia, Anal atresia, Anteverted nares, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the nipples, Aplasia/Hypoplasia of the skin, Atresia of the external auditory canal, Breast aplasia, Breast hypoplasia, Bulbous nose, Camptodactyly of finger, Corneal erosion, Corneal opacity, Cryptophthalmos, Delayed eruption of teeth, Delayed speech and language development, Depressed nasal bridge, Depressed nasal ridge, Dermal atrophy, Dimple chin, Distichiasis, Downslanted palpebral fissures, Downturned corners of mouth, Dry skin, Ectodermal dysplasia, Ectropion, Epicanthus, Excessive wrinkled skin, Failure to thrive, Fine hair, Generalized hirsutism, Global developmental delay, Growth delay, Hearing impairment, High palate, High, narrow palate, Highly arched eyebrow, Hyperextensible skin, Hypertelorism, Hypertrichosis, Hypopigmented skin patches, Hypoplasia of penis, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Hypoplastic nipples, Intellectual disability, Lacrimation abnormality, Low-set ears, Mandibular prognathia, Microdontia, Micrognathia, Microtia, Microtia, third degree, Multiple cafe-au-lait spots, Multiple rows of eyelashes, Myopia, Omphalocele, Periorbital fullness, Prematurely aged appearance, Redundant skin, Shawl scrotum, Short metacarpal, Short philtrum, Short upper lip, Sparse hair, Sparse lateral eyebrow, Sparse lower eyelashes, Sparse or absent eyelashes, Strabismus, Talipes equinovarus, Telecanthus, Thin skin, Thin vermilion border, Toe syndactyly, Umbilical hernia, Underdeveloped nasal alae, Ventral hernia, Visual impairment, Wide mouth, Wide nasal bridge, obsolete Sparse and thin eyebrow

abnormal spleen white pulp morphology, abnormal thymus cortex morphology, abnormal thymus medulla morphology, abnormal thymus morphology, abnormal tumor necrosis factor level, absent Meibomian glands, decreased hair follicle number, decreased liver glycogen level, decreased skeletal muscle glycogen level, epidermal atrophy, narrow snout, no abnormal phenotype detected, postnatal lethality, incomplete penetrance, preweaning lethality, incomplete penetrance, skin lesions, thin dermal layer, thymus atrophy