Affected individuals typically present with severe intrauterine growth retardation and microcephaly. [ncbi.nlm.nih.gov]

• Low Set Ears

  […] malformation Low-set ears Posteriorly rotated ears Growth abnormality Fetal growth restriction Postnatal growth retardation Short stature Small for gestational age Neoplasm Leukemia Nephroblastoma Rhabdomyosarcoma IMPORTANT NOTE: NIH does not independently [ncbi.nlm.nih.gov]

• Seizure

  Generalized tonic-clonic seizures Hydrocephalus Hypodysplasia of the corpus callosum Intellectual disability, profound Severe global developmental delay Ventriculomegaly Ear malformation Low-set ears Posteriorly rotated ears Growth abnormality Fetal [ncbi.nlm.nih.gov]

  Features include severe microcephaly, growth deficiency and short stature, mild physical abnormalities, eye abnormalities, problems with the brain and central nervous system, seizures, developmental delay, and intellectual disability. [rarediseases.info.nih.gov]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]