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
Created by	Johan den Dunnen
Date created	2019-07-05 16:39:31 +02:00 (CEST)
Date last edited	N/A