Table 1.

ORPHA:457193 Autosomal dominant intellectual disability craniofacial-anomalies-cardiac defects syndrome. The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group. * Phenotypic abnormalities noted as “diagnostic criterion” are those included in established sets of criteria to establish the diagnosis of a particular disease having been published in a peer-reviewed journal.

Diagnostic Criterion *
Patent ductus arteriosus HP:0001643
Abnormal facial shape HP:0001999
Intellectual disability, severe HP:0010864
Clinical signs and symptoms
Very frequent
Abnormal facial shape HP:0001999
Broad nasal tip HP:0000455
Global developmental delay HP:0001263
Intellectual disability, severe HP:0010864
Microcephaly HP:0000252
Narrow forehead HP:0000341
Neonatal hypotonia HP:0001319
Poor speech HP:0002465
Prominent nasal bridge HP:0000426
Thin upper lip vermilion HP:0000219
Frequent
Atrial septal defect HP:0001631
Cerebral visual impairment HP:0100704
Craniosynostosis HP:0001363
Downturned corners of mouth HP:0002714
Epicanthus HP:0000286
Feeding difficulties HP:0011968
Gastroesophageal reflux HP:0002020
Growth delay HP:0001510
Low-set, posteriorly rotated ears HP:0000368
Microretrognathia HP:0000308
Muscle stiffness HP:0003552
Neonatal respiratory distress HP:0002643
Patent ductus arteriosus HP:0001643
Plagiocephaly HP:0001357
Ptosis HP:0000508
Seizures HP:0001250
Short stature HP:0004322
Strabismus HP:0000486
Ventricular septal defect HP:0001629
Occasional
Brachydactyly HP:0001156
Cleft palate HP:0000175
Cryptorchidism HP:0000028
Dystonia HP:0001332
Hydronephrosis HP:0000126
Intestinal malrotation HP:0002566
Lacrimal duct stenosis HP:0007678
Laryngomalacia HP:0001601
Optic atrophy HP:0000648
Preauricular pit HP:0004467