Phenotypes associated with the disease microcephaly 17, primary, autosomal recessive (OMIM:617090, an entry in Online Mendelian Inheritance in Man):
- Hypertonia (HP:0001276, a Human Phenotype Ontology term): A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. Evidence: PCS. Frequency: 5/7. (PMID:27453578)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 7/7. (PMID:27453578)
- Sloping forehead (HP:0000340, a Human Phenotype Ontology term): Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view. Evidence: PCS. Frequency: 5/7. (PMID:27453578)
- Hypoplasia of the brainstem (HP:0002365, a Human Phenotype Ontology term): Underdevelopment of the brainstem. Evidence: PCS. Frequency: 0/5. (PMID:27453578)
- Short stature (HP:0004322, a Human Phenotype Ontology term): 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: TAS. (OMIM:617090)
- Seizure (HP:0001250, a Human Phenotype Ontology term): 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: 0/7. (PMID:27453578)
- Agenesis of corpus callosum (HP:0001274, a Human Phenotype Ontology term): Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. Evidence: TAS. (OMIM:617090)
- Delayed fine motor development (HP:0010862, a Human Phenotype Ontology term): A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands. Evidence: PCS. Frequency: 7/7. (PMID:27453578)
- Failure to thrive (HP:0001508, a Human Phenotype Ontology term): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. (OMIM:617090)
- Microlissencephaly (HP:0045028, a Human Phenotype Ontology term): Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements. Evidence: IEA. (OMIM:617090)
- Thick vermilion border (HP:0012471, a Human Phenotype Ontology term): Increased width of the skin of vermilion border region of upper lip. Evidence: PCS. Frequency: 7/7. (PMID:27453578)
- Hypertelorism (HP:0000316, a Human Phenotype Ontology term): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. (OMIM:617090)
- Bulbous nose (HP:0000414, a Human Phenotype Ontology term): Increased volume and globular shape of the anteroinferior aspect of the nose. Evidence: TAS. (OMIM:617090)
- Ventriculomegaly (HP:0002119, a Human Phenotype Ontology term): An increase in size of the ventricular system of the brain. Evidence: TAS. (OMIM:617090)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): 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: 7/7. (PMID:27453578)
- Hyperreflexia (HP:0001347, a Human Phenotype Ontology term): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: PCS. Frequency: 5/7. (PMID:27453578)
- Delayed speech and language development (HP:0000750, a Human Phenotype Ontology term): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 7/7. (PMID:27453578)
- Cerebellar hypoplasia (HP:0001321, a Human Phenotype Ontology term): Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. Evidence: PCS. Frequency: 0/5. (PMID:27453578)
- Hypoplasia of the corpus callosum (HP:0002079, a Human Phenotype Ontology term): Underdevelopment of the corpus callosum. Evidence: PCS. Frequency: 4/5. (PMID:27453578)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): 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: 7/7. (PMID:27453578)
- Low anterior hairline (HP:0000294, a Human Phenotype Ontology term): Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella. Evidence: PCS. Frequency: 1/7. (PMID:27453578)
- Delayed gross motor development (HP:0002194, a Human Phenotype Ontology term): A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. Evidence: PCS. Frequency: 7/7. (PMID:27453578)
- Delayed early-childhood social milestone development (HP:0012434, a Human Phenotype Ontology term): A failure to meet one or more age-related milestones of social behavior. Evidence: PCS. Frequency: 7/7. (PMID:27453578)
- Primary microcephaly (HP:0011451, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender at birth. Evidence: PCS. Frequency: 7/7. (PMID:27453578)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:27453578)
- Macrotia (HP:0000400, a Human Phenotype Ontology term): Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). Evidence: PCS. Frequency: 7/7. (PMID:27453578)
- Spasticity (HP:0001257, a Human Phenotype Ontology term): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: PCS. Frequency: 1/7. (PMID:27453578)
- Renal agenesis (HP:0000104, a Human Phenotype Ontology term): Agenesis, that is, failure of the kidney to develop during embryogenesis and development. Evidence: TAS. (OMIM:617090)
- Simplified gyral pattern (HP:0009879, a Human Phenotype Ontology term): An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly. Evidence: PCS. Frequency: 5/5. (PMID:27453578)