Phenotype #0000315409
| Individual ID |
00424213 |
| Associated disease |
ID |
| Diagnosis/Initial |
intellectual disability |
| Diagnosis/Definite |
- |
| Inheritance |
Isolated (sporadic) |
| Phenotype details |
abnormal facial shape (HP:0001999); coarse facial features (HP:0000280); no triangular face (-HP:0000325); square face (HP:0000321); thick hair (HP:0100874); no high anterior hairline (-HP:0009890); low anterior hairline (HP:0000294); no broad forehead (-HP:0000337); laterally sparse eyebrows (HP:0005338) (1/2); large palpebral fissures (HP:0001090) (1/2); hypertelorism (HP:0000316) (1/2); no periorbital hyperpigmentation (-HP:0001106); infra-orbital crease (HP:0100876); anteverted nares (HP:0000463); wide nasal bridge (HP:0000431); long philtrum (HP:0000343); no short philtrum (-HP:0000322); thin upper lip (HP:0000219); exaggerated cupid's bow (HP:0002263); posteriorly rotated ears (HP:0000358) (1/2); abnormality of the foot (HP:0001760); abnormality of the hand (HP:0001155); abnormality of skeletal morphology (HP:0011842); tapered fingers (HP:0001182); short neck (HP:0000470); brachydactyly (HP:0001156); hypoplastic fingernails (HP:0001804, hypoplastic toenails (HP:0001800); large hands (HP:0001176); single transverse palmar crease (HP:0000954); short stature (HP:0004322) (1/2); global developmental delay (HP:0001263), intellectual disability (HP:0001249); moderate intellectual development (HP:0011343), moderate social development HP:0002342)); no behavioral abnormalities (-HP:0000708); no autistic behavior (-HP:0000729); muscular hypotonia (HP:0001252); abnormal liver morphology (HP:0410042); abnormality of the eye (HP:0000478); abnormality of the genitourinary system (HP:0000119); abnormality of the respiratory system (HP:0002086); abnormal heart morphology (HP:0001627); functional abnormality of the gastrointestinal tract (HP:0011024) (1/2); feeding difficulties (HP:0011968); failure to thrive (HP:0001508) |
| Age/Examination |
09y02m (9 years, 2 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 |
2022-11-18 19:51:29 +01:00 (CET) |
| Date last edited |
N/A |
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