Phenotype #0000000738
| Individual ID |
00001556 |
| Associated disease |
CSS |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
CSS |
| Phenotype details |
brith 40w, weight SD -4, OFC 33 cm; Congenital heart,disease (Aort quartation, PFO; MRI-brain ventricular asymmetry, myelination delay, mega sisterma magna; hypotonia; birth feeding problems 2y; no eczema (-HP:0000964); cutis marmorata (HP:0000965); no seizures (-HP:0001250); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); sparse scalp hair (HP:0002209); normal eyebrow (-HP:0000534); delayed gross motor skills (HP:0002194); abnormal lacrimal duct (HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); short philtrum (HP:0000322), wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); no hypertrichosis (-HP:0000998); wrinkling skin (HP:0007392); no scoliosis (-HP:0002650); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); no brachydactyly (-HP:000156); no absent 5th distal phalanx; multiple small nails (incl. 5th); prominent interphalangeal joints (HP:0006237), prominent distal phalanges;; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); cardiac abnormality (HP:0001627); |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
03y (3 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Gijs Santen |
| Database submission license |
Creative Commons Attribution-ShareAlike 4.0 International |
| Created by |
Ivo F.A.C. Fokkema |
| Date created |
2013-06-28 17:52:20 +02:00 (CEST) |
| Date last edited |
2020-07-26 12:38:06 +02:00 (CEST) |
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