Phenotype #0000052997

Individual ID 00073322
Associated disease KABUK2
Phenotype details not small for gestational age; no short stature; microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; long, thick eyelashes; no blue sclerae; arched eyebrows; lateral sparseness eyebrows; depressed nasal tip; short columella; downslanting corners mouth; no cataracts; no strabismus; no cleft palate; no high arched palate; micrognathia; brachydactyly of the fifth finger; no clinodactyly fifth finger; no scoliosis; hip dysplasia; joint laxity; no foot deformity; no nail dystrophy; thin temporal hair (infancy); no hypertrichosis; persistent fetal finger pads; intellectual disability; muscular hypotonia; feeding difficulties; seizures; structural brain anomaly; no hearing loss; no 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; pulmonary infections; frequent upper airway infections; recurrent otitis media in infancy; no immunodeficiency; no tumor; no leukemia; no neonatal hypoglycemia; no obesity; no precocious puberty; no premature thelarche
Diagnosis/Initial Kabuku syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite KABUK2
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Nina Bögershausen
Database submission license No license selected
Created by Nina Bögershausen