Phenotype #0000053004

Individual ID 00073329
Associated disease KABUK2
Phenotype details not small for gestational age; no short stature; no microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; long, thick eyelashes; blue sclerae; arched eyebrows; lateral sparseness eyebrows; depressed nasal tip; short columella; downslanting corners mouth; no cataracts; no strabismus; no cleft palate; high arched palate; no micrognathia; no selective tooth agenesis; no oligodontia; no supernumerary teeth; no dental crowding; no malocclusion; no dental caries; no prominent upper incisors; brachydactyly of the fifth finger; no clinodactyly fifth finger; no scoliosis; no hip dysplasia; joint laxity; no foot deformity; no nail dystrophy; thin temporal hair (infancy); no hypertrichosis; persistent fetal finger pads; no intellectual disability; muscular hypotonia; no feeding difficulties; no seizures; no hearing loss; no atrial/ventricular septal defect; coarctation of aorta; no tetralogy of Fallot; no renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no autoimmunity; no pulmonary infections; frequent upper airway infections; no recurrent otitis media in infancy; no immunodeficiency; no tumor; no leukemia; no neonatal hypoglycemia; no obesity; no precocious puberty; premature thelarche; bicuspid aortic valve, accessory spleen
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