Phenotype #0000185580
| Individual ID |
00245648 |
| Associated disease |
DD |
| Phenotype details |
see paper; …; square face, flat face; no sparse hair (-HP:0008070); no prominent forehead (-HP:0011220); no thick eyebrows (-HP:0000574); telecanthi; downslanted palpebral fissures; short palpebral fissures; no ptosis, no blepharophimosis; long eyelashes; no squint; no depressed nasal bridge; no depressed nasal ridge; narrow nasal bridge; no short nose; no short columella; no alae lower inserted than columella; no anteverted nares; underdeveloped alae nasi; no full cheeks; short philtrum; no everted vermilion upper lip; thin vermilion upper lip; high palate; missing teeth; no micrognathia/retrognathia; no short-set/low-set ears; no protruding ears (upper part); no prominent inferior crus of antihelix; no overfolded helix ears; no absent earlobe; no 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 |
16y (16 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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