Phenotype #0000185584

Individual ID	00245652
Associated disease	DD
Phenotype details	see paper; …; no square face, no flat face; no sparse hair (-HP:0008070); no prominent forehead (-HP:0011220); no thick eyebrows (-HP:0000574); no telecanthi, no epicanthi; upslanted palpebral fissures; no short palpebral fissures; no ptosis, no blepharophimosis; no 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; no underdeveloped alae nasi; no full cheeks; long philtrum; no everted vermilion upper lip; thin vermilion upper lip; no high palate; no missing teeth; no micrognathia/retrognathia; no short-set/low-set ears; no protruding ears (upper part); prominent inferior crus of antihelix; no overfolded helix ears; no absent earlobe; no clinodactyly fifth finger; sandal gap; no cutaneous partial toe syndactyly; no overlapping toes; fibular deviation distal halluces; no broad/narrow halluces
Diagnosis/Initial	developmental delay
Inheritance	Isolated (sporadic)
Diagnosis/Definite	MKHK-1
Age/Examination	57y (57 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-07-05 15:49:38 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD