Abnormal mandible morphology, Abnormal ossification involving the femoral head and neck, Abnormal pelvis bone ossification, Abnormal scapula morphology, Abnormality of chromosome segregation, Abnormality of neutrophils, Abnormality of the calcaneus, Abnormality of the dentition, Abnormality of the metaphysis, Abnormality of the orbital region, Abnormality of the vertebral spinous processes, Abnormally ossified vertebrae, Absent or minimally ossified vertebral bodies, Absent toenail, Anterior rib punctate calcifications, Barrel-shaped chest, Bilateral tonic-clonic seizure, Bone marrow hypocellularity, Bowing of the long bones, Brachydactyly, Broad palm, Calvarial skull defect, Cardiomegaly, Cystic hygroma, Decreased skull ossification, Depressed nasal bridge, Diaphyseal undertubulation, Disproportionate short-limb short stature, Eczematoid dermatitis, Epiphyseal stippling, Extramedullary hematopoiesis, Failure to thrive, Flared metaphysis, Foot dorsiflexor weakness, Frontal bossing, Giant platelets, Gingival overgrowth, Global developmental delay, Hepatic calcification, Hepatomegaly, Hepatosplenomegaly, High forehead, Horizontal sacrum, Hypertelorism, Hypoplasia of the maxilla, Hypoplastic fingernail, Hyposegmentation of neutrophil nuclei, Intellectual disability, Intestinal malrotation, Kyphosis, Laryngeal calcification, Lethal skeletal dysplasia, Long clavicles, Low-set ears, Lower limb hyperreflexia, Lower limb hypertonia, Lymphedema, Macrocephaly, Malar flattening, Median cleft palate, Mesomelia, Metaphyseal cupping, Micrognathia, Micromelia, Midface retrusion, Mild short stature, Multiple prenatal fractures, Narrow chest, Neutropenia, Nonimmune hydrops fetalis, Omphalocele, Pancreatic islet-cell hyperplasia, Patchy variation in bone mineral density, Pes cavus, Platyspondyly, Pleural effusion, Polydactyly, Polyhydramnios, Postaxial foot polydactyly, Postaxial hand polydactyly, Preeclampsia, Prominent forehead, Pulmonary hypoplasia, Punctate vertebral calcifications, Recurrent otitis media, Rhizomelia, Sandal gap, Sclerosis of skull base, Seizure, Severe short-limb dwarfism, Short 3rd metacarpal, Short 4th metacarpal, Short 5th metacarpal, Short diaphyses, Short phalanx of finger, Short ribs, Sternal punctate calcifications, Strabismus, Supernumerary vertebral ossification centers, Thrombocytopenia, Tooth malposition, Tracheal calcification, Ulnar deviation of the hand, Umbilical hernia, Upper limb undergrowth, Ventricular septal defect, Vertebral hypoplasia, obsolete Severe hydrops fetalis

abnormal skin condition, abnormal vibrissa morphology, constricted vagina orifice, decreased CD4-positive, alpha beta T cell number, decreased T cell proliferation, decreased body size, decreased vocalization, delayed hair appearance, dilated piliary canal, enlarged lateral ventricles, enlarged lymph nodes, epidermal hyperplasia, epidermis stratum spinosum hyperplasia, homeostasis/metabolism phenotype, increased anti-chromatin antibody level, increased anti-nuclear antigen antibody level, increased autoantibody level, increased keratohyalin granule size, increased mitochondrial fission, increased neuron apoptosis, increased susceptibility to systemic lupus erythematosus, perinatal lethality, incomplete penetrance, postnatal lethality, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, prenatal lethality, incomplete penetrance, reduced female fertility, reduced male fertility, short vibrissae, skeleton phenotype, tail necrosis