Phenotype #0000053001

Individual ID 00073326
Associated disease KABUK2
Phenotype details small for gestational age; short stature; no microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; long, thick eyelashes; no blue sclerae; arched eyebrows; no lateral sparseness eyebrows; depressed nasal tip; no short columella; downslanting corners mouth; no cataracts; strabismus; no cleft palate; micrognathia; no prominent upper incisors; brachydactyly of the fifth finger; clinodactyly fifth finger; no scoliosis; no hip dysplasia; joint laxity; no foot deformity; no nail dystrophy; no 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 pulmonary infections; no frequent upper airway infections; no immunodeficiency; no tumor; no leukemia; no obesity; cachexia, no walking, no speech at age 10
Diagnosis/Initial Kabuku syndrome
Inheritance Unknown
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