Phenotype #0000185585

Individual ID	00245653
Associated disease	DD
Phenotype details	see paper; …; square face, 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/deep philtrum; everted vermilion upper lip; no thin vermilion upper lip; high palate; micrognathia/retrognathia; low-set ears; protruding ears (upper part); prominent inferior crus of antihelix; overfolded helix ears; absent earlobe; clinodactyly fifth finger; no sandal gap; cutaneous partial toe syndactyly; no overlapping toes; fibular deviation distal halluces; broad halluces
Diagnosis/Initial	developmental delay
Inheritance	Isolated (sporadic)
Diagnosis/Definite	MKHK-1
Age/Examination	2y (2 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