Phenotype #0000053006

Individual ID	00073331
Associated disease	KABUK2
Phenotype details	not small for gestational age; no short stature; no microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; no long, thick eyelashes; blue sclerae; arched eyebrows; lateral sparseness eyebrows; no depressed nasal tip; short columella; downslanting corners mouth; no strabismus; no cleft palate; no high arched palate; no micrognathia; no selective tooth agenesis; no brachydactyly of the fifth finger; no clinodactyly fifth finger; no scoliosis; no hip dysplasia; no foot deformity; nail dystrophy; no thin temporal hair (infancy); no hypertrichosis; persistent fetal finger pads; intellectual disability; muscular hypotonia; feeding difficulties; no seizures; atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; no renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no autoimmunity; no pulmonary infections; no frequent upper airway infections; no recurrent otitis media in infancy; no immunodeficiency; no tumor; no leukemia; neonatal hypoglycemia; isolated persistent left superior vena cava, hyperinsulinism
Diagnosis/Initial	Kabuku syndrome
Inheritance	Isolated (sporadic)
Diagnosis/Definite	KABUK2
Age/Examination	-
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	-
Protein	-
Owner name	Nina Bögershausen
Database submission license	No license selected
Created by	Nina Bögershausen
Date created	2016-05-30 09:32:44 +02:00 (CEST)
Date last edited	2020-11-09 10:39:26 +01:00 (CET)