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Table 1 Clinical features of the presented cases compared with patients with 9q subtelomeric deletion presented by Kleefstra et al.

From: Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype

Features Kleefstra et al. [8] Patient 1 Patient 2
Gender - +
MR 28/28 (100) + +
Obesity 5 (16) - -
Microcephaly 25 (83) - +
Brachycephaly 12 (33) - -
Flat face 5 (16) + +
Midface hypoplasia 16 (53) + +
Coarse facies 8 (27) - -
Hypertelorism 15 (50) - +
Synophrys 16 (53) - -
Down slant palpebral fissures 6 (20) + -
Up slant palpebral fissures 5 (16) - +
Arched eyebrows 8 (27) - -
Short nose 17 (57) + +
Anteverted nostrils 12 (33) - -
Carp mouth 23 (77) + +
Macroglossia 12 (33) - -
Natal teeth 1 (3) - -
Thick lower lip 5 (16) - +
Pointed chin 5 (16) - +
Malformed ears 12 (33) - +
Brachydactyly 5 (16) - -
Simian crease 10 (30) - -
Abnormal male genitals 10 (33) -  
Cardiac anomaly 15 (50) + -
Anal atresia 2 (7) - -
Alopecia 3 (10) - -
Depigmentation 1 (3) - -
Renal cysts 2 (7) - -
Hydronephrosis 2 (7) - -
Behavioral problems 4 (9) - +
Sleep disturbances 3 (10) - -
Hearing loss 6 (20) + +
Hypotonia 15 (50) + +
Seizures 10 (30) + +