Phenotype #0000279221
| Individual ID |
00385425 |
| Associated disease |
NS |
| Phenotype details |
height 136.5 cm (SD-1.50), weight 27.5 kg (SD-2.30), OFC 55 cm (SD+1.00); no developmental delay; intellectual disability; no language delay; attention deficit; no hypotonia; congenital heart defect, pulmonary valve stenosis; no hypertrophic cardiomyopathy; pectus excavatum; hyperlaxity; kyphosis, clinodactyly, abnormal toe position; bitemporal narrowing; hypertelorism; low-set and/or posteriorly rotated ears; prominent nasal bridge; low posterior hairline; short/webbed neck; high cranial vault, triangular and coarse face, downward slanted palpebral fissures, ptosis, prominent philtrum, large mouth, thick lips, micrognathia, high arched/narrow palate; no café-au-lait spots; no freckling; hyperhydrosis, deep palmar creases; no lymphatic involvement; no bleeding/easy bruising; no hematological abnormalities; transient splenomegaly that gradually disappeared between age 2.5 and 8.5 years, sigmoid dolichocolon |
| Diagnosis/Initial |
Noonan syndrome-like |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
NS14 |
| Age/Examination |
11y11m (11 years, 11 months) |
| 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 |
2021-10-11 08:59:10 +02:00 (CEST) |
| Date last edited |
2024-01-25 09:33:21 +01:00 (CET) |
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