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Table 1 Phenotype information of patients included in the study

From: SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay

Patient Sex Age a Diagnosis b Dysmorphism Malformation(s) Other
1.1 F 12 y ID Yes Multiple: multicystic dysplastic kidney (left), ventriculomegaly, temporal white matter loss, pectus excavatum Deafness, myopia, nystagmus, dysphagia, mild scoliosis
3.2 M 6 mo Growth delay Yes Cerebral: microcephaly, gyral simplification, myelination delay Spastic quadriparesis
6.3 M 11 y PDD, mild ID Yes Mild: pectus excavatum Café au lait spots. Mother: school difficulties, epilepsy, murmur, arthrosis
10.4 M 7 y Global DD, PDD No No Hypotonia, café au lait spots, pes planus
11.4 M 13 y Global DD No No Simple febrile convulsions, hypotonia, diminished deep tendon reflexes
14.5 F 14 y Mild ID, growth delay Yes Multiple: microcephaly, thick corpus callosum, malocclusion, filum terminale lipoma, sacral agenesis Feeding difficulties
17.6 M 3 y DD, autism No No -
20.7 M 18 mo Speech delay Yes Craniofacial: trigonocephaly, labiopalatine cleft Heterochromia, facial asymmetry
23.8 M 13 y DD, mild ID No Multiple: cerebellar atrophy, malocclusion, valgus feet Ataxia
26.9 M 5 y Global DD, mild ID Yes No Obesity, ataxia, buccolingual dyspraxia, increased lactates (blood & LCR)
29.10 M 17 y ID, autism Yes No Obesity, retinitis pigmentosa
32.11 M 2 y DD Yes Cerebral: microcephaly, pons size slightly reduced, 4th ventricle size slightly increased Short stature, epilepsy, gastroesophageal reflux
35.12 M 17 mo Global DD Yes Multiple: optic atrophy, thin corpus callosum, cerebral atrophy, myelination delay Epilepsy, hypotonia, mild limb spasticity
38.13 F 6 y ID No No -
41.14 M 22 mo Global DD Yes No Ligament hypermobility. Father: learning disability
44.15 M 4 y DD, autism No Craniofacial: submucosal palatine cleft Velopharyngeal insufficiency
47.16 M 3 y Global DD No Pulmonary valve stenosis Gastroesophageal reflux
50.17 F 10 y Global DD No No Epilepsy
53.18 M 5 y Global DD No No Tall stature
56.19 F 11 y Mild ID No No Strabismus
59.20 F 34 mo Atypical development No No Mild facial asymmetry
  1. ay: years, mo: months.
  2. bID: intellectual disability, PDD: pervasive developmental disorder, DD: developmental delay.