From: A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report
Evaluations | Age at test date | Result |
---|---|---|
Ambulatory EEG | 3 years | Normal |
Chromosome Analysis | 3 years | Normal (46XX) |
Microarray | 3 years | Normal |
Fragile X | 3 years | Normal (29 and 32 CGG repeats) |
MECP2 seq + del/dup | 3 years | Normal |
Trio WES | 3 years | De novo missense variant in the KDM5C gene (g.X-53239925 T > C; c.1516A > G; p.Met506Val; NM_004187.4) |
Wechsler Preschool and Primary Scale of Intelligence - IV | 2 years 8 months | Full Scale Intelligence Quotient (IQ) = 85 (Low Average range) General Ability Index = 91 (Average range) Vocabulary Acquisition Index = 75 (Borderline range)a |
Vineland 3 | 2 years 8 months | Adaptive Behavior Composite =70 (percentile rank = 2) Communication Domain =72 (percentile rank =3) • The communication domain is made up of two subdomains: Expressive and Receptive. The probands score was adequate for receptive and low for expressive domains. The probands receptive score is significantly higher than the expressive score. Daily Living Skills Domain = 75 (percentile rank = 5)) Socialization Domain = 65 (percentile rank =1) Motor Skills Domain = 55 (percentile rank < 1) • The motor domain is made of two subdomains Gross and Fine Motor. The probands gross motor was moderately low and fine motor score was low. The gross motor was significantly higher than fine motor |
Childhood Autism Rating Scales 2 | 2 years 8 months | Raw Score = 28.5 (Minimal to no symptoms of Autism Spectrum Disorder) |