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 |
| Date created |
2016-05-30 09:32:44 +02:00 (CEST) |
| Date last edited |
2020-11-09 10:39:26 +01:00 (CET) |
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