Phenotype #0000053005

Individual ID 00073330
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; no arched eyebrows; lateral sparseness eyebrows; no depressed nasal tip; short columella; downslanting corners mouth; no strabismus; no cleft palate; high arched palate; no micrognathia; no brachydactyly of the fifth finger; no clinodactyly fifth finger; hip dysplasia; no joint laxity; no nail dystrophy; thin temporal hair (infancy); no hypertrichosis; persistent fetal finger pads; intellectual disability; muscular hypotonia; feeding difficulties; no seizures; structural brain anomaly; no hearing loss; 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 pulmonary infections; no frequent upper airway infections; no recurrent otitis media in infancy; no tumor; no leukemia; neonatal hypoglycemia; left ventricular hypertrophy
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