Table 1 Clinical features of patients with homozygous PTCs in PDZD8

Consanguinity

Yes

Yes

6/6

Ethnic Origin

Afghan

Afghan

Genotype, Mat/Pat

p.(Q30*)/p.(Q30*);

c.88 C > T/c.88 C > T

p.(Q30*)/p.(Q30*);

c.88 C > T/c.88 C > T

Sex

Male

Female

Age, Years

18

13

Developmental Delay

Yes

Yes

6/6

Intellectual Disability

Yes (severe)

Yes (severe)

6/6 (severe: 4/6)

Autism

Yes (ASD)

Yes (ASD)

6/6 (ASD: 5/6)

Facial Dysmorphism

Yes

Yes

6/6

Myasthenia

Yes (mild)

Yes (mild)

5/6 (mild: 3/6)

Epilepsy

Yes

No

3/6

Scoliosis

Yes

No

2/6

Aggression

No

Yes

1/6

Orbital Hypertelorism

No

No

4/6

Myopia

No

No

2/6

Marfanoid Habitus

No

No

2/6

ADHD

No

No

2/6

Brain Scan Findings

Cortico-subcortical demyelinating lesions; mild cerebellar atrophy

Subcortical aspecific gliotic lesions