Table 1. Hirschsprung patients without a RET mutation and additional phenotypical features.
| Patient | HSCR type | Other phenotypical characteristics |
|---|---|---|
| P_000482 | Short | Hydrocephalus, macrocephaly, autism |
| P_000540 | Short | Facial dysmorphisms |
| P_000494 | Short | Cardiac defects (VSD, ASD PDA, tricuspid atresia), dysplastic ears, renal malrotation |
| P_000512 | Short | Epilepsy, intellectual disability |
| P_000553 | Short | Cardiac defects (VSD, dextrocardia, PDA, double outlet right ventricle), intestinal malrotation |
| P_000559 | Total colonic | Dysmorphic features, tracheomalacia, cardiac defects (dilated left ventricle, absence of AV conduction) |
| P_000561 | Short | Facial dysmorphisms, small fontanelle, gastro-esophageal reflux, laryngeal web |
| P_000555 | Short | Hypoplastic thumb, hearing loss, developmental delay, facial dysmorphisms |
| P_002459 | Short | Hypospadias, mild autism |
| P_000567 | Short | Facial dysmorphisms, hearing loss, microcephaly, immunological hypersensitivity, nevus flammeus |
| P_000536 | Abnormal | Telecanthus upslant; short segment HSCR although a longer segment is abnormal ganglionated. |
| P_000562 | Short | Cafe au lait spots, cardiac defect (VSD) |
| P_000572 | TIA | Retrognathia, skin abnormality, facial dysmorphisms, cardiac defect (pulmonary valve stenosis) |
| P_000568 | Short | Dysmorphic features, hydrocele testis, hemangioma |
| P_000478 | Short | Hypertelorism, facial dysmorphisms |
| P_000520 | Short | Mild facial dysmorphisms, sandal-gap of toe |
| P_002455 | Short | Hypermobility of fingers; mild developmental delay, downslant of eyes |
| P_001763 | Short | White hair lock, mild developmental day |
| P_000537 | Short | Gross motor delay, spastic hemiplegia, bronchopulmonary dysplasia, cardiac defect (PDA) |
| P_000528 | Total colonic | Intellectual disability |
| P_000573 | Short | Epicanthal folds, small ears, broad eyebrows with mild synophrys |
| P_002450 | Long | Developmental delay |
| P_002343 | Short | Hypertelorism, long deeply grooved philtrum |
Depicted are the patients with HSCR and additional anatomical malformations or neurological defects (HSCR-AAM), but without a RET pathogenic variant, or other causal genetic defect (group 1, n = 23). Listed are the patient identifiers, HSCR classification, and phenotypical description regarding the associated anomalies.