Phenotype #0000310498
| Individual ID |
00419211 |
| Associated disease |
CFSMR |
| Phenotype details |
see paper; ..., birth weight 3750g (+1.4SD); global developmental delay, hypotonia, hearing loss; 1y2m-sat unsupported, able to stand up with support, able to grasp and transfer objects between hands and throw things on floor; spoke about five words; visually alert, socially awake, friendly demeanor; hypertrichosis, macrocephaly, brachycephaly, plagiocephaly, dysmorphic facial features (frontal bossing, receding frontal hairline with frontal upsweep, long, straight and bushy eyebrows, synophrys, long eyelashes, wide nasal bridge, short nose with upturned tip, deep and long philtrum, small mouth with thin upper lip, large protruding tongue, low-set ears; short neck with low posterior hairline, prominent interdigital folds, joint laxity, diastasis recti; 22-OFC increased (50.5cm, +2.6SD), length 87 cm (+0.87SD), weight 11.9kg (+0.13SD) within normal range |
| Diagnosis/Initial |
cerebro-facio-thoracic dysplasia |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
CFSMR1 |
| Age/Examination |
00y22m (22 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Tess Holling |
| Database submission license |
Creative Commons Attribution-ShareAlike 4.0 International |
| Created by |
Tess Holling |
| Date created |
2022-10-18 14:03:37 +02:00 (CEST) |
| Date last edited |
2024-04-10 11:37:02 +02:00 (CEST) |
|
Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.
|
