Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr18:53017640
- GRCh38:
- Chr18:55350409
| TCF4 | | Pitt-Hopkins syndrome, Anteverted nares, Epicanthus,
Global developmental delay, Feeding difficulties in infancy, Drooling,
Stereotypic movement disorder, Short nose | Pathogenic
(Jan 1, 2016) | criteria provided, single submitter |
| | | | Microcephaly, Psychosis, Attention deficit hyperactivity disorder,
Poor speech, High, narrow palate, Chronic diarrhea,
Intention tremor, Brisk reflexes, Severe failure to thrive,
Inflexible adherence to routines, Thin upper lip vermilionStereotypic movement disorder,
Global developmental delay, Oligohydramnios, Hypotonia,
Anteverted ears, Abnormal emotion/affect behavior, Tics,
Prominent nasal bridge, Protruding ear, Short philtrum,
Specific learning disability, Abnormal facial shape, Delayed speech and language development,
Downslanted palpebral fissures, Feeding difficulties in infancy, Brachycephaly,
Autistic behavior, Atypical behavior, Feeding difficulties,
...see more | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Nasolacrimal duct obstruction, Oral cleft, Feeding difficulties in infancy
| Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |