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Table 1 Clinical features of affected members of families ANMR51, RQMR10 and ATM02. n.a. = not assessed

From: Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features

Family ANMR51 RQMR10 ATM02
Patient ID IV-5 IV-4 IV-3 V-3 V-1 V-6 V-7 V-8 VI-2 VI-3 VI-1a V-2 V-1 V-3 V-5
Sex M M F M M M M F M F M F M M M
Age (Yrs) 25 27 17 20 15 >50 >50 >50 17 7 8 20 23 18 15
Neurodevelopment
Developmental delay (motor, cognitive, speech) Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes
Intellectual Disability Severe Severe Severe Severe Severe Severe Severe Severe Severe Severe Severe Severe Moderate Moderate Moderate
Language Single words Single words Single words Single words Single words Single words Single words Single words Single words No speech Single words Single words Small sentences Small sentences Small sentences
Autistic behaviors Nb Nb Nb Nb Nb Nb Nb Nb Nbc Nb Nb Y Y Y Y
Age 1st walked <2 <2 <2 <2 <2 <2 <2 <2 2 4 2 <2 2.5 2.4 2.0
Hypotonia? n.a. n.a. n.a. n.a. n.a. n.a. n.a. n.a. n.a. n.a. n.a. n.a. yes yes yes
Coordination poor poor poor poor poor poor poor poor poor poor poor poor poor poor poor
Facies
OFC (cm) 49 49 47 n.a. n.a. 47.5 48 48 n.a. n.a. n.a. n.a. 51 49 49
Thick eyebrows n.a. n.a. n.a. n.a. n.a. No Yes n.a. Yes No n.a. No Yes Yes Yes
Prominent nasal bridge n.a. n.a. n.a. n.a. n.a. No Yes n.a. No No n.a. No Yes Yes Yes
short philtrum n.a. n.a. n.a. n.a. n.a. Yes Yes n.a. No No n.a. No Yes Yes Yes
wide or wave shaped palpebral fissures n.a. n.a. n.a. n.a. n.a. Yes No n.a. No No n.a. No Yes Yes Yes
Prominent incisors n.a. n.a. n.a. n.a. n.a. n.d. n.d. n.a. Yes Yes n.a. Yes Yes Yes Yes
Mild synophrys n.a. n.a. n.a. n.a. n.a. Yes Yes n.a. Yes Yes n.a. Yes Yes Yes Yes
Eyes
Myopia + + + + + Blind Blind + + + + + + + +
Retinopathy n.a. n.a. n.a. n.a. n.a. n.a. n.a. n.a. + retinal dystrophy n.a. n.a. n.a. n.a. n.a. n.a.
Neutropenia n.a. n.a. n.a. n.a. n.a. n.a. n.a. n.a. - Pan-cytopenia n.a. n.a. + n.a. n.a.
Miscellaneous    Total loss of teeth   - Prominent chin - - Ptosis; hyperactivity    Pes planus & pes cavus; Truncal obesity Pes planus hypoactive Pes planus hyperactive recurrent skin infections Pes planus; pica
  1. aNow deceased
  2. bthese individuals were aloof, isolated, not sociable; however there were no repetitive behaviors
  3. cHyperactivity also noted