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Genitopatellar syndrome
1 OMIM reference -
1 associated gene
10 connected diseases
35 signs/symptoms
Disease Type of connection
Blepharophimosis-intellectual deficit syndrome, SBBYS type
Noonan syndrome
Cleidocranial dysplasia
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Chronic myeloid leukemia
Dentatorubral pallidoluysian atrophy
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Isolated delta-storage pool disease
Precursor B-cell acute lymphoblastic leukemia
Synonym(s):
- Absent patellae - scrotal hypoplasia - renal anomalies - facial dysmorphism - intellectual deficit
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
KAT6B Q8WYB5605880
Very frequent
- Arthrogryposis
- Autosomal recessive inheritance
- Broad nose / nasal bridge
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- High nasal bridge
- Hypoplastic scrotum / hemiscrotum / scrotal ridges
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long / large / bulbous nose
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microcephaly
- Patella absent / abnormal (excluding luxation)
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Polycystic kidneys
- Short hand / brachydactyly
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Frequent
- Corpus callosum / septum pellucidum total / partial agenesis
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Fine hair
- Hypertelorism
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Long philtrum
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Seizures / epilepsy / absences / spasms / status epilepticus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Talipes-valgus

Occasional
- Apnea / sleep apnea
- Atrial septal defect / interauricular communication
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hearing loss / hypoacusia / deafness
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Insterstitial / subtelomeric microdeletion / deletion
- Radioulnar synostosis
- Short stature / dwarfism / nanism