Phenotype #0000185586

Individual ID	00245654
Associated disease	DD
Phenotype details	see paper; …; square face, flat face; no sparse hair (-HP:0008070); prominent forehead (HP:0011220); thick eyebrows (HP:0000574); telecanthi; no up/downslanted palpebral fissures; short palpebral fissures; blepharophimosis; long eyelashes; squint; no depressed nasal bridge; no depressed nasal ridge; no narrow nasal bridge; short nose; short columella; alae lower inserted than columella; no anteverted nares; no underdeveloped alae nasi; full cheeks; no philtrum short (s)/long (l)/deep (d); no everted vermilion upper lip; thin vermilion upper lip; high palate; no missing teeth; no micrognathia/retrognathia; short-set ears, low-set ears; no protruding ears (upper part); prominent inferior crus of antihelix; overfolded helix ears; absent earlobe; 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	4y (4 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