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Table 2 Timescale of DGDP005’s medical evaluations as well as her clinical features

From: Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability

Age Evaluation Clinical features
<5 years Pediatrician - Crawling, sitting, walking and attaining language milestones delayed
   - Craniofacial anomalies including macrocephaly
   - Problematic motor skills.
~10 years Developmental pediatrician - Special education implemented in curriculum
   - Difficulty falling asleep and treatment with melatonin
   - ADHD
   - Hypertonia.
   - Possible sensory motor difficulties.
14 years Standford Binet Intelligence Scales-Fifth edition (SB5) - Difficulty staying on the task and needed to be redirected from time to time
   - Overall thinking and reasoning at ~13 percentile.
   - Borderline nonverbal reasoning abilities
   - Verbal reasoning at ~12 percentile
   - Verbal and nonverbal problem solving at ~ 58 percentile
   - Ability to gather information at ~ 18 percentile
   - Numerical problem solving at ~7 percentile.
   - Borderline visual display abilities
   - Ability to maintain attention at ~13 percentile.
   - Full scale quotient of 83 (95 % confidence interval 79–87) suggesting intellectual disability.
16 years Individualized education program review team - OHT
   -ADHD
   - Language disability in written language expression
   - Disability in math calculation and reasoning
   - Difficulties in fine graph motor functions with soft neurological signs.
   - Continues to be a student with disability
18 years Child neurology services - Developmental encephalopathy
   - Cognitive impairment
   - OCD as well as ADHD
   -Treatment with fluoxetine (aka Prozac10 mg) and Adderall (15 mg)
   - More pronounced facial dysmorphisms including prominent forehead, low-set ears, narrow nose thin lips
22 years Admitted to emergency - Diagnosed with intraventricular hemorrhage with layering in the posterior fossa.
   - Right anterior communicating artery aneurysm
   - Developmental delay, OCD and ADHD