Table 1 Clinical features recorded in each patient expressed as percentage in are provided
Signs/symptoms | Percentage of patients | |
|---|---|---|
Intellectual disability | Severe | 6.5 % |
Moderate | 12 % | |
Mild | 60 % | |
Absent | 21.5 % | |
Autism spectrum disorder | 17.2 % | |
Familiarity for ID and/or MCA | 8 % | |
Prenatal perinatal problems | 14 % | |
Short stature | 19.15 % | |
Tall stature | 2.8 % | |
Macrocephaly | 7 % | |
Microcephaly (Craniosynostosis included) | 31 % | |
Forehead and eyebrows phenotypic abnormalities | 38 % | |
Eyes, palpebral fissures and eyelashes phenotypic abnormalities | 54 % | |
Nose and phyltrum phenotypic abnormalities | 37 % | |
Oral region, teeth and tongue phenotypic abnormalities | 49 % | |
Ears phenotypic abnormalities | 37 % | |
Neck and thorax phenotypic abnormalities | 18 % | |
Upper limbs, lower limbs, hands and feet phenotypic abnormalies | 26 % | |
Gastrointestinal malformations (megacolon, Duodenal/Esophageal stenosis) | 16 % | |
Neurology (Epilepsy, hypertonia, hypotonia, paresis, extrapyramidal signs) | 14 % | |
Cardiac malformations | 33 % | |
Pulmonary malformations | 1 % | |
Kidney and urinary tract anomalies | 8 % | |
Abnormal external genitalia | 12 % | |
Ocular malformation | 16 % | |
Vertebral anomalies | 22 % | |
Skeletal dysplasia | 5 % | |
Haematological abnormalities | 3 % | |
Nails and hair anomalies | 13 % | |
Alterated skin pigmentation or skin hemangioma | 13.3 % | |
Endocrinological abnormalities | 10 % | |