Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder

Participant 1 at 5 years (A), participant 2 at 4 years (B), participant 3 at 17 years (C), participant 4 at 21 years (D), participant 5 at 10 years (E), participant 6 at 37 years (F), participant 7 at 11 years (G), participant 8 at 5 years (H), participant 9 at 3 years (I), participant 10 at 3 years (J), participant 11 at 4 years (K), participant 12 at 7 years (L), participant 13 at 13 years (M), participant 14 at 18 years (N), participant 15 at 2 years (O), participant 17 at 8 years (P), participant 18 at 16 years (Q), participant 19 at 23 years (R), participant 20 at 4 years (S), participant 21 at 6 years (T), participant 22 at 19 years (U), and participant 23 at 9 years (V). (W.a) Dorsal view of thumb hypoplasia in participant 5 at 3 years. (W.b) Palmar view of thumb hypoplasia in participant 20 at 5 years. (W.c) Dorsal view of arachnodactyly in participant 16 at 17 years. (W.d) Curvature of the fifth finger toward the adjacent fourth finger (clinodactyly) in participant 11 at 12 years. (X.a) Frontal view; sandal gap left hallux; right foot clubbing in participant 5 at 2 years. (X.b) Bilateral brachydactyly in participant 29 at 3 years. (X.c) Medial view of calcaneal adduction with navicular bone drop in participant 9 at 18 years. (X.d) Frontal view of sandal gap (right) with varus deviation in participant 17 at 21 years.

Sagittal T1-weighted image demonstrates a vertical configuration of the posterior body/splenium of the corpus callosum (A and C, arrows) as well as thinning of the corpus callosum (C) (participant 27). Coronal T2-weighted image demonstrates prominence of the extra-axial spaces (arrows) in this child age 1 year 5 months (B) (participant 14). Axial T2-weighted image demonstrates delayed myelination of the anterior limbs of the internal capsule (arrow) in this patient age 10.5 months (D) (participant 1). Axial diffusion-weighted (E) and apparent diffusion coefficient (F) images demonstrate restricted diffusion involving the tegmental tracts (arrows, participant 1).

(A) Radar plot depicting sensory processing domains of Toddler Sensory Profile 2, where scores of 1 represent much less than others, 2 represents less than others, 3 represents just like the majority of others, 4 represents more than others, and 5 represents much more than others (n = 2). (B) Radar plot depicting sensory processing domains of Child Sensory Profile 2, where scores of 1 represent much less than others, 2 represents less than others, 3 represents just like the majority of others, 4 represents more than others, and 5 represents much more than others. Dotted lines represent participants with a parent reported ASD diagnosis (n = 7). (C) Radar plot depicting sensory processing quadrants for all Toddler, Child and Adolescent Sensory Profile 2, where scores of 1 represent much less than others, 2 represents less than others, 3 represents just like the majority of others, 4 represents more than others, and 5 represents much more than others. Dotted lines represent participants with an ASD diagnosis (n = 10). (D) Domain scores behavioral and emotional concerns were measured using the Behavior Assessment System for Children, third edition. ASD = autism spectrum disorder.