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Table 1 Summary of the clinical data of affected individuals.

From: A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability

Clinical Findings

IV-12

IV-14

IV-13

IV-6

IV-10

IV-11

Sex

Female

Female

Female

Male

Male

Male

Age on assessment

15 years

10 years

13 years

18 years

10 years

11 years

Developmental delay

+

+

+

+

+

+

Head Circumference

52

51 cm

51

Not Available

52 cm

50 cm

Speech Development

+

+

+

+

+

+

Dysmorphic feature

-

-

-

-

-

-

Skeletal Problem

-

-

-

-

-

-

Ophthalmological problem

-

-

-

-

-

-

Epilepsy

-

+

-

-

-

-

Mental retardation

Severe

Severe

Severe

Severe

Severe

Severe

Growth

Normal

Normal

Weak

Normal

Normal

Normal

Schooling

-

-

-

-

-

-

Learning Disability

+

+

+

+

+

+

Muscular dystrophy

-

-

-

-

-

-

Self biting

-

-

-

-

-

-

  1. Each column indicates the data of an individual and row presents the category of clinical symptoms, (- indicates absence, + indicates presence).