Delayed puberty, EEG abnormality, Feeding difficulties in infancy, Generalized hypotonia, Gynecomastia, Hearing impairment, Hypogonadism, Hypoplasia of penis, Hypoplasia of the prostate, Hypotonia, Intellectual disability, Intellectual disability, severe, Kyphosis, Large earlobe, Macrocephaly, Macrotia, Microcephaly, Micropenis, Narrow palpebral fissure, Nystagmus, Obesity, Orofacial cleft, Peripheral neuropathy, Prominent supraorbital ridges, Ptosis, Scheuermann-like vertebral changes, Scoliosis, Seizure, Short stature, Short toe, Shortening of all distal phalanges of the fingers, Shortening of all middle phalanges of the fingers, Skeletal muscle atrophy, Small scrotum, Sparse hair, Tapered finger, Thick eyebrow, Thickened calvaria, Truncal obesity, Visual impairment, Widely spaced toes, obsolete Joint hyperflexibility

decreased body length, decreased body size, decreased circulating growth hormone level, decreased circulating insulin-like growth factor I level, decreased exploration in new environment, decreased growth hormone level, decreased hematopoietic stem cell number, decreased lean body mass, decreased prolactin level, decreased single cell response threshold, decreased startle reflex, decreased vertical activity, impaired contextual conditioning behavior, increased circulating interferon-alpha level, increased common lymphocyte progenitor cell number, increased hematopoietic stem cell number, increased hematopoietic stem cell proliferation, increased plasmacytoid dendritic cell number, increased single cell response intensity, increased susceptibility to pharmacologically induced seizures, increased white adipose tissue amount, perinatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, preweaning lethality, complete penetrance, reproductive system phenotype