- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: PCS. Frequency: 1/6. (PMID:17632511)
- Diaphyseal sclerosis (HP:0003034): An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity. Evidence: TAS. (OMIM:259710)
- Cranial nerve compression (HP:0001293). Evidence: TAS. (OMIM:259710)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 3/6. (PMID:17632511)
- Osteopetrosis (HP:0011002): Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal. Evidence: TAS. (OMIM:259710)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 2/6. (PMID:17632511)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 6/6. (PMID:17632511)
- Blindness (HP:0000618): Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. Evidence: PCS. Frequency: 1/6. (PMID:17632511)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: PCS. Frequency: 3/6. (PMID:17632511)
- Recurrent fractures (HP:0002757): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: PCS. Frequency: 4/6. (PMID:17632511)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: TAS. (OMIM:259710)
- Persistence of primary teeth (HP:0006335): Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth. Evidence: TAS. (OMIM:259710)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 0/6. (PMID:17632511)
- Cranial hyperostosis (HP:0004437): Excessive growth of the bones of cranium, i.e., of the skull. Evidence: IEA. (OMIM:259710)
- Osteomyelitis (HP:0002754): Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. Evidence: TAS. (OMIM:259710)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 3/6. (PMID:17632511)
- Mandibular osteomyelitis (HP:0007626): Osteomyelitis of the lower jaw. Evidence: TAS. (OMIM:259710)
- Facial paralysis (HP:0007209): Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve). Evidence: TAS. (OMIM:259710)
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: TAS. (OMIM:259710)
- Chronic rhinitis due to narrow nasal airway (HP:0004499). Evidence: IEA. (OMIM:259710)
- Decreased osteoclast count (HP:0030328): Decreased number of osteoclasts in bone tissue. Evidence: PCS. Frequency: 4/4. (PMID:17632511)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:17632511)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: TAS. (OMIM:259710)
- Extramedullary hematopoiesis (HP:0001978): The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms. Evidence: TAS. (OMIM:259710)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: TAS. (OMIM:259710)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: PCS. Frequency: 6/6. (PMID:17632511)
- Pancytopenia (HP:0001876): An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). Evidence: TAS. (OMIM:259710)
- Mandibular prognathia (HP:0000303): Abnormal prominence of the chin related to increased length of the mandible. Evidence: TAS. (OMIM:259710)
These phenotypes are associated with the disease autosomal recessive osteopetrosis 2 (OMIM:259710).