Table 2.

Clinical Characteristics of Individuals with De Novo HNRNPH2 Variants

Individual	Variant	Age (Years)	Microcephaly? (Congenital or acquired?)	DD/ID	Regressions	ASD	ADHD	Other Psychiatric Co-morbidities	Seizures	Tone Abnormalities (Hypo or Hyper)	Other Neurological Findings	MRI Findings	Ophthalmologic Findings	Dysmorphic Features	Skeletal Anomalies	GI Symptoms and Growth Parameters	Other Clinical Findings
1	c.616C>T (p.Arg206Trp)	34	Y (A)	Y	Y	Y	Y	anxiety, OCD, aggressive behavior, self-injurious	Y	hypo, hyper	abnormal gait, ankle clonus	normal	Y, exotropia	hypotelorism, wide mouth, full lips, high narrow nasal bridge, curly hair	lordosis, short stature, bilateral femoral osteotomies, arachnodactyly	FTT, short stature	N
2	c.616C>T (p.Arg206Trp)	8	N	Y	N	Y	N	repetitive stereotypic behavior	Y	hypo	ataxia, muscle weakness	aplasia /hypoplasia cerebellar vermis	?	epicanthal folds, midface hypoplasia, almond shaped eyes	N	constipation	mild hearing loss, anemia, epistaxis
3	c.617G>A (p.Arg206Gln)	4	N	Y	Y	N	N	N	N	hypo	N	NA	N	small palpebral fissures	pes planus	GERD as an infant	happy demeanor, sensitive to noise, hand flapping
4	c.626C>T (p.Pro209Leu)	6	Y (A)	Y	Y	N	N	anxiety	Y	hypo	incoordination	normal	N	hypertelorism, fetal finger pads	short stature, talus valgus	FTT, feeding issues	cardiac (atrial septal defect and MVP), sensory disorder
5	c.616C>T (p.Arg206Trp)	21	N	Y	N	Y	Y	N	N	hypo	N	normal	N	highly arched palate, mild micrognathia, elongated fingers	pectus carinatum, pes planus, scoliosis, stretchable skin, joint laxity	GERD as a child; underweight	cardiac (MVP)
6	c.616C>T (p.Arg206Trp)	2	N	Y	N	N	N	N	N	hypo	torticollis, dystonic posturing left hand, dyspraxia	possible distorted cerebellar vermis	N	symmetrically concave eyebrow, pseudo-fissure in upper lip	N	feeding difficulties, drooling	N

Abbreviations are as follows: GERD, gastroesophageal reflux disease; FTT, failure to thrive; MVP, mitral valve prolapse; ?, unknown; A, acquired; NA, not applicable.