Skip to main content

Table 1 Patient’s demographic data and comorbidities

From: Shedding light on the phenotypic–genotypic correlation of rare treatable and potentially treatable pediatric movement disorders

Patient

Gender

Age at onset (years)

Age at diagnosis (years)

Current age (years)

Parental consanguinity

Family history

Comorbidities

P1

Male

0.83

5

7.8

1st cousins

Younger brother has PKC

Elder brother has learning difficulties

Speech delay

P2

Female

2

9

12

No

No

Learning difficulties

P3

Male

Since birth

1.5

4.5

1st cousins

No

Recurrent chest infections

Feeding difficulties

Failure to thrive

P4

Male

5

13

17.7

1st cousins

Elder brother and maternal aunt had spasticity and ichthyosis

Speech difficulties Failure to thrive

P5

Male

6

16

20

1st cousins

Mother’s sister had facial twitching movements

Dysphagia and recurrent chest infections during childhood

P6a

Female

2.1

4

6

1st cousins

Maternal grandmother had hypoglycemia

Strabismus

Failure to thrive

  1. aPublished in Ali A. et al. Genes[10]