Small hands and feet, hypogonadism. Fragile-X Syndrome Chromosomal Sex chromosome Progressively longer tandem repeats on the long arm of the X-chromosome. The longer the number of repeats, the worse the syndrome. [kumc.edu]

Low birth-weight, round-face, hypertelorism (wide-set eyes), low-set ears, epicanthal folds. Down Syndrome (Trisomy 21) Chromosomal Trisomy 21, with risk increasing with maternal age. [kumc.edu]

Seizures are usually responsive to monotherapy with standard antiepileptic drugs (AEDs). [centogene.com]

The brother had borderline/normal intelligence, episodic seizures, and clumsiness; the sister had a normal IQ and neither seizures nor behavioral abnormalities. [genome.jp]

Additional clinical features may include short stature or mild seizures. [diseaseinfosearch.org]

PMID 17534152 ASPM mutations identified in patients with primary microcephaly and seizures. Shen J, Eyaid W, Mochida GH, Al-Moayyad F, Bodell A, Woods CG, Walsh CA. J Med Genet. 2005 Sep;42(9):725-9. [atlasgeneticsoncology.org]

"Mutations in PNKP cause microcephaly, seizures and defects in DNA repair". Nature Genetics. 42 (3): 245–9. doi : 10.1038/ng.526. PMC 2835984. PMID 20118933. [en.wikipedia.org]