Phenotype #0000242936
| Individual ID |
00324394 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
typical facial features, microcephaly, no prominent glabella, no short philtrum, no micrognathia, no high forehead, abnormal ears, no strabismus, hypertelorism, no epicanthal folds, no exophthalmos, no ptosis, no nystagmus, no iris coloboma, no corectopia, high-arched eyebrows, wide nasal bridge, no beaked nose, no cleft lip, no cleft palate, no downturned corners omouth, abnormal teeth, no webbed neck ; intrauterine/postnatal growth retardation; intellectual disability/developmental delay; no hypotonia; no decreased muscle bulk; no seizures and/or distinctive EEG abnormalities; no feeding difficulties; no skin changes; skeletal anomalies; no craniofacial asymmetry; no hearing loss; no heart defects; no eye/optic nerve anomalies; no genitourinary tract anomalies; no structural brain anomalies; no stereotypies; no liver anomalies; no gallbladder anomalies; no gut anomalies; no diaphragm anomalies; no esophagus anomalies; no lung anomalies; no aorta anomalies |
| Inheritance |
Familial, autosomal dominant |
| Age/Examination |
04y09m (4 years, 9 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2020-12-11 13:27:45 +01:00 (CET) |
| Date last edited |
N/A |
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