Phenotype #0000073661
| Individual ID |
00095265 |
| Associated disease |
BAMS |
| Phenotype details |
complete arhinia ; bilateral microphthalmia. Ectopic iris. Vision loss (can only see light); hypertelorism. Posterior cleft palate. Gingival cleft of lower arch. Cleft lower lip (operated). Cleft mandibula. Underdeveloped superior ear pinnae, auricular pit (R). Absent auditory canal (R). CT: absence of external auditory canals. Absence of nasal cavity, nasal bone and anterior soft tissue. Midface hypoplasia. Obstruction of nasolacrimal passage; hypoplastic labia majora. No menarche or secondary sex development; tall and strong build; severe psychomotor retardation. Walked at 4.5 years, talked with two word sentences at the age of 4 years then lost vocabulary. Has prominent articulation defect. Never had toilet training. Has sleep disorder. Stereotypic movements. Anxious, aggressive and non-cooperative; bilateral olfactory bulb agenesis |
| Diagnosis/Initial |
- |
| Inheritance |
Isolated (sporadic) |
| Diagnosis/Definite |
- |
| Age/Examination |
26y (26 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2017-01-13 12:30:06 +01:00 (CET) |
| Date last edited |
2017-01-13 12:51:16 +01:00 (CET) |
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