Phenotype #0000059353
| Individual ID |
00079629 |
| Associated disease |
WDSTS |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Initial |
- |
| Birth_Details |
38 weeks’ gestation, birth weight 2,450 g (10–25th centiles), occipitofrontal circumference (OFC) of 33 cm (3rd to 10th centiles), and length of 49 cm (50th centile). |
| Diagnosis/Definite |
- |
| Age/Examination |
14y (14 years) |
| Height-Weight-OFC |
-6SD, -4SD, -6SD |
| Phenotype details |
Short stature;
Microcephaly;
Eyebrow, lateral flare -;
Hypertelorism;
Downslanted palpebral fissures;
Vertically narrow palpebra fissures -;
Wide nasal bridge;
Broad nasal tip -;
Long philtrum -;
Thin upper lip;
Low-set ears -;
Strabismus;
Dolichocilia;
Thick hair;
thick eyebrows;
Abnormal dentition;
High palate -;
Micrognathia -;
hypotonia;
Advanced bone age -;
Small hands and feet;
Fleshy hands/feet -;
Clinodactyly -;
Congenital hip dysplasia;
Hypertrichosis cubiti;
Hypertrichosis, back;
Hypertrichosis, lower limbs;
Developmental delay;
Intellectual disability;
Autism -;
Aggressive behavior;
Seizure;
Hyperactivity -;
Cardiovascular anomalies -;
Kidney/ureter malformation -;
Feeding difficulties;
Nasogastric and percutaneous endoscopic gastrostomy feeding;
Intestine anomalies;
Immunodeficiency;
Urinary trait infection;
Respiratory trait infection -;
Otitis media -;
Cryptorchidism;
Constipation;
Poor sleep;
Bulbous nose;
Depressed nasal bridge; |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Guorui Hu |
| Database submission license |
No license selected |
| Created by |
Guorui Hu |
| Date created |
2016-08-15 18:08:38 +02:00 (CEST) |
| Date last edited |
2016-12-02 13:08:37 +01:00 (CET) |
|
