Phenotype #0000053008

Individual ID 00073333
Associated disease KABUK2
Phenotype details small for gestational age; short stature; microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; long, thick eyelashes; blue sclerae; no arched eyebrows; no lateral sparseness eyebrows; depressed nasal tip; short columella; no downslanting corners mouth; no cataracts; strabismus; no cleft palate; high arched palate; micrognathia; no selective tooth agenesis; no oligodontia; no supernumerary teeth; no dental crowding; no malocclusion; no dental caries; no prominent upper incisors; no brachydactyly of the fifth finger; clinodactyly fifth finger; no scoliosis; no hip dysplasia; joint laxity; foot deformity; no nail dystrophy; no thin temporal hair (infancy); hypertrichosis; persistent fetal finger pads; intellectual disability; muscular hypotonia; feeding difficulties; no seizures; no 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; no pulmonary infections; no 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; mild unilateral ptosis, bilateral simian crease, hyperactivity, hand‐flapping, bruxism
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