- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85179)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85179)
- Agenesis of corpus callosum (HP:0001274): 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. Frequency: Frequent (HP:0040282). (ORPHA:85179)
- Partial agenesis of the corpus callosum (HP:0001338): A partial failure of the development of the corpus callosum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85179)
- Cerebral atrophy (HP:0002059): Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85179)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85179)
- Increased skull ossification (HP:0004330): An increase in the magnitude or amount of ossification of the skull. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85179)
- Cranial nerve paralysis (HP:0006824). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85179)
- Peripheral neuropathy (HP:0009830): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85179)
- Brain atrophy (HP:0012444): Partial or complete wasting (loss) of brain tissue that was once present. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85179)
- Abnormal myelination (HP:0012447): Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85179)
- Hypoplastic hippocampus (HP:0025517): Underdevelopment of the hippocampus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85179)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85179)
- Pneumonia (HP:0002090): Inflammation of any part of the lung parenchyma. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85179)
- Fetal distress (HP:0025116): An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85179)
These phenotypes are associated with the disease Infantile osteopetrosis with neuroaxonal dysplasia (ORPHA:85179).