Phenotypes associated with the disease Blepharophimosis-intellectual disability syndrome, Ohdo type (ORPHA:2728):
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2728)
- Small scrotum (HP:0000046): Apparently small scrotum for age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2728)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2728)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2728)
- Abnormality of the outer ear (HP:0000356): An abnormality of the external ear. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2728)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2728)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2728)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2728)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2728)
- Blepharophimosis (HP:0000581): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2728)
- Amblyopia (HP:0000646): Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2728)
- Hypoplasia of teeth (HP:0000685): Developmental hypoplasia of teeth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2728)
- Widely spaced teeth (HP:0000687): Increased spaces (diastemata) between most of the teeth in the same dental arch. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2728)
- Microdontia (HP:0000691): Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2728)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2728)
- Abnormal palmar dermatoglyphics (HP:0001018): An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2728)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2728)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2728)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2728)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2728)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2728)
- Heart murmur (HP:0030148): An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2728)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2728)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2728)
- Multiple bladder diverticula (HP:0012619): Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2728)
- Neonatal asphyxia (HP:0012768): Respiratory failure in the newborn. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2728)