| - GRCh37:
- Chr1:103377736-103377753
- GRCh38:
- Chr1:102912180-102912197
| COL11A1 | | Myopia, Hypertelorism, Abnormal facial shape,
Short nose, Cleft palate, Telecanthus,
Megalocornea, Hypoplasia of the maxilla | Likely pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr10:76784742-76784745
- GRCh38:
- Chr10:75024984-75024987
| KAT6B | R438fs, R352fs, R570fs, R787fs, R950fs, R778fs, R841fs, R1133fs | Telecanthus, Epicanthus, Renal hypoplasia,
Abnormal facial shape, Bulbous nose, Poor speech,
Blepharophimosis, Hypoplasia of the maxilla, Vesicoureteral reflux,
Intellectual disability | Likely pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189949930
- GRCh38:
- Chr2:189085204
| COL5A2 | G252C | Ehlers-Danlos syndrome, classic type, 2, Telecanthus, Hyperextensible skin,
Neuropathic spinal arthropathy, Joint hypermobility, Ehlers-Danlos syndrome, classic type, 1
| Likely pathogenic
(May 28, 2022) | criteria provided, multiple submitters, no conflicts |
| | | | Telecanthus, Malar flattening, Specific learning disability,
Global developmental delay | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Cerebral calcification, Thin upper lip vermilion, Growth delay,
Telecanthus, Global developmental delay, Short palpebral fissure,
Midface retrusion, Speech articulation difficulties, Epicanthus,
Wide nasal bridge, Abnormal facial shapeAnteverted nares,
Hyperactivity, ...see more | Likely pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Abnormal facial shape, Micrognathia, Alopecia areata,
Epicanthus, Pectus excavatum, Telecanthus,
Osteoporosis, Recurrent fractures, Coarse hair,
Frontal upsweep of hair, Abnormality of the outer ear ...see more | Likely pathogenic
(Aug 20, 2016) | criteria provided, single submitter |