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Table 1 Clinical features of the families

From: Exome sequencing identifies novel and known mutations in families with intellectual disability

S. no. Family ID Individual ID Gender Age (years) Head circumference (cm; SD) Height (in.; SD) Weight (kg; SD) Inheritance ID severity Clinical features
1 MRID126 3 Female 21 52 − 2.17 62.4 − 0.73 66 + 0.53 AR Moderate Prominent jaw, Long face
4 Male 19 58.5 + 2.37 68.4 − 0.40 54.5 − 1.72
2 MRID137 3 Female 8 54 + 1.81 44.4 − 2.64 18.5 − 2.17 AR Severe Speech impairment, Low set ears (MRID136-6), Hypertelorism, Prominent forehead, Esotropia (MRID137-5), Facial asymmetry (MRID137-4), Seizures
4 Female 15 53 − 1.07 58.8 − 1.93 40 − 1.79
5 Female 12 53 ± 0.0 55.2 − 1.46 32.5 − 1.46
6 Female 8 54.5 + 2.18 45.6 − 2.10 19.5 − 1.87
3 MRID143 3 Male 23 59 + 2.72 69.6 + 0.03 87 + 1.12 AR Mild Repetitive behavior, drooling, Aggressive behavior, Strabismus, Hypertelorism (MRID143-3), anteverted nostrils (MRID143-3)
4 Female 20 56 + 1.52 63 − 0.5 55 − 0.34
5 Female 18 56 + 1.52 63 − 0.44 74 + 1.11
4 MRID149 3 Male 8 52 − 0.22 50.4 + 0.03 25.5 − 0.04 XL Severe Speech impairment, Impaired analytical ability, testicular dysgenesis
4 Male 13 53 − 0.80 62.4 + 0.31 46 + 0.04
5 Male 10 52.5 − 0.23 54 − 0.22 30 − 0.46
5 MRID165 1 Female 11 50.5 − 1.71 56.4 − 0.09 33 − 0.75 XL Moderate Speech unclear, Impaired analytical ability
2 Male 17 52 − 2.08 61.2 − 2.30 53 − 1.18
3 Male 19 52.5 − 1.75 64.8 − 1.67 62 − 0.83
6 MRID170 1 Female 21 56 + 1.52 62.4 − 0.73 63 + 0.35 AR Severe Facial asymmetry, Broad nasal tip and Hypertelorism in MRID170-2
2 Male 11
3 Male 18 54 − 0.74 60 − 3.02 60 − 0.71
7 MRID175 1 Female 8 48 − 2.94 46.8 − 1.55 20.5 − 1.56 AR Moderate Speech unclear, drooling, Seizures (MRID175-2)
2 Female 16 52.5 − 1.69 57.6 − 2.45 42 − 1.70
3 Male 13 50 − 2.82 63.6 + 0.70 50.5 + 0.38
  1. DNA sample from individuals in italic type were used for exome sequencing
  2. AR = autosomal recessive, XL = X-linked; SD = standard deviation