Global Variome shared LOVD

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Phenotype #0000185583 Individual ID 00245651 Associated disease DD Phenotype details see paper; …; no square face, no flat face; sparse hair (HP:0008070); prominent forehead (HP:0011220); no thick eyebrows (-HP:0000574); telecanthi; upslanted palpebral fissures; short palpebral fissures; ptosis, blepharophimosis; no long eyelashes; squint; depressed nasal bridge; depressed nasal ridge; no narrow nasal bridge; short nose; short columella; alae lower inserted than columella; anteverted nares; no underdeveloped alae nasi; full cheeks; long philtrum; everted vermilion upper lip; no thin vermilion upper lip; no missing teeth; micrognathia/retrognathia; short-set ears, low-set ears; protruding ears (upper part); prominent inferior crus of antihelix; overfolded helix ears; absent earlobe; no clinodactyly fifth finger; no sandal gap; cutaneous partial toe syndactyly; overlapping toes; 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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