Phenotypes associated with the disease syndromic microphthalmia type 5 (OMIM:610125):
- 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: PCS. Frequency: 1/3. (PMID:15846561)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 5/7. (PMID:18854396;PMID:19965921;PMID:20396904)
- 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: 2/6. (PMID:19965921;PMID:15846561)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: TAS. (OMIM:610125)
- Microcornea (HP:0000482): A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood. Evidence: TAS. (OMIM:610125)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: PCS. Frequency: 1/1. (PMID:15846561)
- Absent pituitary stalk (HP:0034976): A developmental defect characterized by failure to develop of the pituitary stalk. The pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland. Evidence: PCS. Frequency: 2/2. (PMID:18854396;PMID:20396904)
- Thin corpus callosum (HP:0033725): An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration). Evidence: PCS. Frequency: 1/1. (PMID:15846561)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 2/4. (PMID:15846561)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 1/1. (PMID:15846561)
- Gonadotropin deficiency (HP:0008213): A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH). Evidence: PCS. Frequency: 1/1. (PMID:18854396)
- High hypermetropia (HP:0008499): A severe form of hypermetropia with over +5.00 diopters. Evidence: PCS. Frequency: 1/1. (PMID:15846561)
- 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: 0/2. (PMID:15846561)
- Proportionate short stature (HP:0003508): A kind of short stature in which different regions of the body are shortened to a comparable extent. Evidence: PCS. Frequency: 1/1. (PMID:18628516)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: PCS. Frequency: 3/5. (PMID:19965921)
- Macular atrophy (HP:0007401): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells in the macula. Evidence: PCS. Frequency: 1/1. (PMID:15846561)
- 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: 0/2. (PMID:15846561)
- Retinal dystrophy (HP:0000556): Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event. Evidence: TAS. (OMIM:610125)
- Undetectable visual evoked potentials (HP:0007965). Evidence: PCS. Frequency: 1/1. (PMID:15846561)
- Diminished prolactin response to thyrotrophin-releasing hormone stimulation (HP:6000241): The increase in prolactin concentration (PRL) following stimulation with thyrotropin (thyrdoid releasing hormone) as compared to baseline PRL concentration is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:19965921)
- 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: PCS. Frequency: 1/1. (PMID:18628516)
- Micropenis (HP:0000054): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: PCS. Frequency: 1/1. (PMID:18854396)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: TAS. (OMIM:610125)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 6/7. (PMID:18854396;PMID:19965921;PMID:15846561;PMID:20396904)
- Impaired growth-hormone response to insulin stimulation test (HP:0031079): Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT). Evidence: PCS. Frequency: 3/3. (PMID:19965921)
- Abnormal response to gonadotropin-releasing hormone stimulation test (HP:0031279): An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH). Evidence: PCS. Frequency: 0/4. (PMID:19965921)
- Decreased growth hormone responses to growth hormone-releasing hormone challenge (HP:0033579): Insufficient growth hormone secretion following administration of growth hormone-releasing hormone. Evidence: PCS. Frequency: 1/1. (PMID:18854396)
- Optic nerve hypoplasia (HP:0000609): Underdevelopment of the optic nerve. Evidence: PCS. Frequency: 1/1. (PMID:18628516)
- Anophthalmia (HP:0000528): Absence of the globe or eyeball. Evidence: PCS. Frequency: 5/9. (PMID:18628516;PMID:18854396;PMID:19965921;PMID:15846561;PMID:20396904)
- Hypoplastic optic chiasm (HP:0034311): Developmental defect characterized by undergrowth of the optic chiasm. Evidence: PCS. Frequency: 1/1. (PMID:15846561)
- Decreased circulating free T3 (HP:0032210): A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation. Evidence: PCS. Frequency: 1/6. (PMID:19965921;PMID:20396904)
- Chiari malformation (HP:0002308): Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow. Evidence: PCS. Frequency: 1/1. (PMID:18854396)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: PCS. Frequency: 9/9. (PMID:19965921;PMID:15846561)
- Partial agenesis of the corpus callosum (HP:0001338): A partial failure of the development of the corpus callosum. Evidence: PCS. Frequency: 1/1. (PMID:15846561)
- Reduced response to gonadotropin-releasing hormone stimulation test (HP:0020159): Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels. Evidence: PCS. Frequency: 3/3. (PMID:18854396;PMID:19965921;PMID:20396904)
- Anterior chamber synechiae (HP:0007833). Evidence: PCS. Frequency: 1/3. (PMID:15846561)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:15846561)
- Chorioretinal coloboma (HP:0000567): Absence of a region of the retina, retinal pigment epithelium, and choroid. Evidence: PCS. Frequency: 1/1. (PMID:15846561)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/3. (PMID:18628516;PMID:18854396;PMID:20396904)
- Anterior pituitary hypoplasia (HP:0010627): Underdevelopment of the anterior pituitary gland. Evidence: PCS. Frequency: 5/5. (PMID:18854396;PMID:19965921;PMID:20396904)
- Persistent pupillary membrane (HP:0009917): The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil. Evidence: PCS. Frequency: 2/3. (PMID:15846561)
- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: PCS. Frequency: 1/1. (PMID:15846561)
- Ectopia pupillae (HP:0009918): A malposition of the pupil owing to a developmental defect of the iris. Evidence: PCS. Frequency: 1/3. (PMID:15846561)
- Decreased circulating insulin-like growth factor 1 concentration (HP:0030353): The concentration of insulin-like growth factor 1 (IGF1) in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 2/5. (PMID:19965921)
- Abnormal corpus callosum morphology (HP:0001273): Abnormality of the corpus callosum. Evidence: PCS. Frequency: 0/1. (PMID:15846561)
- Ectopic posterior pituitary (HP:0011755): An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis. Evidence: PCS. Frequency: 4/5. (PMID:18854396;PMID:19965921;PMID:20396904)
- Retractile testis (HP:0012646): A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex. Evidence: PCS. Frequency: 1/1. (PMID:19965921)
- Optic nerve aplasia (HP:0012521): Congenital absence of the optic nerve. Evidence: PCS. Frequency: 1/1. (PMID:15846561)
- Moderately reduced visual acuity (HP:0030515): Moderate reduction of the ability to see. On the 6m visual acuity scale, moderate reduction is defined as less than 6/18 but at least 6/60. On the 20ft visual acuity scale, moderate reduction is defined as less than 20/70 but at least 20/200. On the decimal visual acuity scale, moderate reduction is defined as less than 0.3 but at least 0.1. Evidence: PCS. Frequency: 1/5. (PMID:15846561)
- Severe intellectual disability (HP:0010864): Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34. Evidence: PCS. Frequency: 2/3. (PMID:15846561)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/1. (PMID:18854396)
- Decreased circulating free T4 concentration (HP:0033078): A reduced concentration of free thyroxine (fT4) in the blood circulation. Evidence: PCS. Frequency: 1/6. (PMID:19965921;PMID:20396904)
- 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: 4/5. (PMID:15846561)
- Hypoglycemia (HP:0001943): A decreased concentration of glucose in the blood. Evidence: PCS. Frequency: 1/1. (PMID:18854396)
- Iris coloboma (HP:0000612): A coloboma of the iris. Evidence: PCS. Frequency: 1/2. (PMID:15846561)
- Periventricular leukomalacia (HP:0006970): Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia. Evidence: PCS. Frequency: 0/2. (PMID:15846561)
- Prolonged neonatal jaundice (HP:0006579): Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants. Evidence: PCS. Frequency: 1/1. (PMID:18854396)
- 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: PCS. Frequency: 2/2. (PMID:15846561)
- Central hypothyroidism (HP:0011787): A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects. Evidence: PCS. Frequency: 1/1. (PMID:18854396)
- Decreased response to growth hormone stimulation test (HP:0000824): Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests. Evidence: PCS. Frequency: 4/6. (PMID:19965921;PMID:20396904)
- Overweight (HP:0025502): Increased body weight with a body mass index of 25-29.9 kg per square meter. Evidence: PCS. Frequency: 1/1. (PMID:20396904)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. Frequency: 0/5. (PMID:19965921)
- Optic disc pallor (HP:0000543): A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. Evidence: PCS. Frequency: 1/1. (PMID:15846561)
- Abnormal TSH response to thyrotrophin-releasing hormone stimulation test (HP:0033080): Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesized by, stored within, and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal response in the TRH stimulation test. Evidence: PCS. Frequency: 0/4. (PMID:19965921)
- Coloboma (HP:0000589): A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. Evidence: PCS. Frequency: 10/12. (OMIM:610125;PMID:15846561)
- 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: PCS. Frequency: 1/1. (PMID:18854396)