Phenotype #0000185600
| Individual ID |
00245668 |
| Associated disease |
DD |
| Phenotype details |
square face; telecanthi; no up/downslanted palpebral fissures; short palpebral fissures; ptosis; no squint; no depressed nasal ridge; short nose; broad nasal tip; no short columella; anteverted nares; no full cheeks; deep philtrum; everted vermilion upper lip; no thin vermilion upper lip; no high palate; micrognathia/retrognathia; no low‐set ears, no short-set ears; no protruding ears (upper part); no cupped ear; no overfolded helix; no ulnar deviation finger(s); no clinodactyly fifth finger; no prominent fetal tip pads; sandal gap; no cutaneous partial syndactyly toes; fibular deviation distal phalanx halluces; no broad halluces, no narrow halluces; no prenatal growth retardation; no postnatal growth retardation; microcephaly (OFC <3rd centile); no hypertrichosis; no highly arched eyebrows; no long eyelashes; no down‐slanted palpebral fissures; no epicanthi; no convex nasal ridge; no low hanging columella; no grimacing smile; no high palate; no micrognathia; no low‐set ears; no broad thumbs; no angulated thumbs; no broad halluces; apparent intellectual disability/develop delay; severe intellectual disability; epilepsy; no cardiovascular anomalies; urinary tract anomalies; no scoliosis; no obesity; tapering fingers |
| Diagnosis/Initial |
developmental delay |
| Inheritance |
Isolated (sporadic) |
| Diagnosis/Definite |
MKHK-1 |
| Age/Examination |
6y (6 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 16:39:31 +02:00 (CEST) |
| Date last edited |
N/A |
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