Phenotypes associated with the disease holoprosencephaly 4 (OMIM:142946):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/2. (PMID:16962354)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 2/2. (PMID:16962354)
- Dystonia (HP:0001332): An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. Evidence: PCS. Frequency: 1/1. (PMID:16962354)
- Median cleft upper lip (HP:0000161): A type of cleft lip presenting as a midline (median) gap in the upper lip. Evidence: PCS. Frequency: 2/2. (PMID:16962354)
- 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: 1/1. (PMID:16962354)
- Absent nasal septal cartilage (HP:0005273): Lack of the cartilage of the nasal septum. Evidence: PCS. Frequency: 1/1. (PMID:16962354)
- Aplasia of the premaxilla (HP:0010757): Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla. Evidence: PCS. Frequency: 1/1. (PMID:16962354)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 1/1. (PMID:16962354)
- Median cleft palate (HP:0009099): Cleft palate of the midline of the palate. Evidence: PCS. Frequency: 2/2. (PMID:16962354)
- 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: IEA. (OMIM:142946)
- Depressed nasal tip (HP:0000437): Decreased distance from the nasal tip to the nasal base. Evidence: PCS. Frequency: 1/1. (PMID:16962354)
- Lobar holoprosencephaly (HP:0006870): A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally. Evidence: PCS. Frequency: 1/2. (PMID:16962354)
- Hypotelorism (HP:0000601): Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). Evidence: IEA. (OMIM:142946)
- Semilobar holoprosencephaly (HP:0002507): A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly. Evidence: PCS. Frequency: 1/2. (PMID:16962354)
- Diabetes insipidus (HP:0000873): A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus). Evidence: PCS. Frequency: 2/2. (PMID:16962354)
- 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: IEA. (OMIM:142946)
- Aplasia of the olfactory tract (HP:0020128): Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell. Evidence: PCS. Frequency: 1/1. (PMID:16962354)