Phenotype #0000185586
| Individual ID |
00245654 |
| Associated disease |
DD |
| Phenotype details |
see paper; …; square face, flat face; no sparse hair (-HP:0008070); prominent forehead (HP:0011220); thick eyebrows (HP:0000574); telecanthi; no up/downslanted palpebral fissures; short palpebral fissures; blepharophimosis; long eyelashes; squint; no depressed nasal bridge; no depressed nasal ridge; no narrow nasal bridge; short nose; short columella; alae lower inserted than columella; no anteverted nares; no underdeveloped alae nasi; full cheeks; no philtrum short (s)/long (l)/deep (d); no everted vermilion upper lip; thin vermilion upper lip; high palate; no missing teeth; no micrognathia/retrognathia; short-set ears, low-set ears; no protruding ears (upper part); prominent inferior crus of antihelix; overfolded helix ears; absent earlobe; clinodactyly fifth finger; no sandal gap; no cutaneous partial toe syndactyly; no overlapping toes; no fibular deviation distal halluces; no broad/narrow halluces |
| Diagnosis/Initial |
developmental delay |
| Inheritance |
Isolated (sporadic) |
| Diagnosis/Definite |
MKHK-1 |
| Age/Examination |
4y (4 years) |
| 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 |
2019-07-05 15:49:38 +02:00 (CEST) |
| Date last edited |
N/A |
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