Phenotypes associated with the disease neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination (OMIM:618367):
- Exaggerated startle response (HP:0002267): An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face. Evidence: PCS. Frequency: 2/2. (PMID:30031689)
- Hypertonia (HP:0001276): 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: 1/2. (PMID:30031689)
- Delayed CNS myelination (HP:0002188): Delayed myelination in the central nervous system. Evidence: PCS. Frequency: 2/2. (PMID:30031689)
- 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: 2/2. (PMID:30031689)
- Cerebellar atrophy (HP:0001272): Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. Evidence: PCS. Frequency: 1/2. (PMID:30031689)
- 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: 2/2. (PMID:30031689)
- Short femur (HP:0003097): An abnormal shortening of the femur. Evidence: PCS. Frequency: 1/2. (PMID:30031689)
- Cerebral hypomyelination (HP:0006808): Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system. Evidence: PCS. Frequency: 2/2. (PMID:30031689)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/2. (PMID:30031689)
- Short humerus (HP:0005792): Underdevelopment of the humerus. Evidence: PCS. Frequency: 1/2. (PMID:30031689)
- Short umbilical cord (HP:0001196): Decreased length of the umbilical cord. Evidence: PCS. Frequency: 1/2. (PMID:30031689)
- EEG with generalized slow activity (HP:0010845): Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). Evidence: PCS. Frequency: 1/2. (PMID:30031689)
- Focal emotional seizure with laughing (HP:0010821): Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'. Evidence: PCS. Frequency: 1/2. (PMID:30031689)
- Nuchal cord (HP:0012498): A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times. Evidence: PCS. Frequency: 1/2. (PMID:30031689)
- Cerebral visual impairment (HP:0100704): A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye. Evidence: PCS. Frequency: 1/2. (PMID:30031689)
- Irritability (HP:0000737): An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity). Evidence: PCS. Frequency: 1/2. (PMID:30031689)
- CNS hypomyelination (HP:0003429): Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. Evidence: PCS. (PMID:30031689)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: PCS. Frequency: 1/2. (PMID:30031689)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: PCS. Frequency: 1/2. (PMID:30031689)
- Lateral ventricle dilatation (HP:0006956). Evidence: PCS. Frequency: 1/2. (PMID:30031689)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 2/2. (PMID:30031689)
- 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:30031689)
- Thick eyebrow (HP:0000574): Increased density/number and/or increased diameter of eyebrow hairs. Evidence: PCS. Frequency: 1/2. (PMID:30031689)
- Hypoplasia of the corpus callosum (HP:0002079): Underdevelopment of the corpus callosum. Evidence: PCS. Frequency: 1/2. (PMID:30031689)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: PCS. Frequency: 2/2. (PMID:30031689)
- Full cheeks (HP:0000293): Increased prominence or roundness of soft tissues between zygomata and mandible. Evidence: PCS. Frequency: 1/2. (PMID:30031689)
- Atonic seizure (HP:0010819): Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature. Evidence: PCS. Frequency: 1/2. (PMID:30031689)
- 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: 2/2. (PMID:30031689)
- Epiblepharon (HP:0011225): Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva. Evidence: PCS. Frequency: 1/2. (PMID:30031689)
- Tapered finger (HP:0001182): The gradual reduction in girth of the finger from proximal to distal. Evidence: PCS. Frequency: 1/2. (PMID:30031689)
- Tonic seizure (HP:0032792): A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening. Evidence: PCS. Frequency: 1/2. (PMID:30031689)
- 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:30031689)
- Drooling (HP:0002307): Habitual flow of saliva out of the mouth. Evidence: PCS. Frequency: 1/2. (PMID:30031689)
- Spasticity (HP:0001257): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: PCS. Frequency: 2/2. (PMID:30031689)