Synonym(s): (no synonyms)
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease - Rare skin disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal dominant		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
SETBP1	Q9Y6X0	611060

- Anteverted nares / nostrils
- Autosomal recessive inheritance
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- Coarse face
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Frontal bossing / prominent forehead
- Hypertelorism
- Hypertonia / spasticity / rigidity / stiffness
- Hypospadias / epispadias / bent penis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Large fontanelle / delayed fontanelle closure
- Low set ears / posteriorly rotated ears
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Micropenis / small penis / agenesis
- Mid-facial hypoplasia / short / small midface
- Mild visual loss / impaired visual acuity
- Narrow forehead
- Palpebral edema / periorbital edema
- Prominent / bat ears
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Short neck
- Short / small nose
- Vesicorenal / vesicoureteral reflux

- Abnormal / absent ossification
- Anomalies of the ribs
- Bowed diaphysis / diaphyses / long bones
- Choanal atresia
- Congenital cardiac anomaly / malformation / cardiopathy
- Cortical anomaly / thick bone cortical layer
- Death in infancy
- Depressed nasal bridge
- Excess nuchal skin without pterygium colli
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Microcephaly
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Poorly ossified skull / calvarium
- Proptosis / exophthalmos
- Stillbirth / neonatal death
- Terminal / third phalangeal bone of fingers hypoplasia
- Undescended / ectopic testes / cryptorchidia / unfixed testes

- Brachycephaly / flat occiput
- Camptodactyly of fingers
- Clavicle absent / abnormal
- Congenital alacrimia
- Corneal clouding / opacity / vascularisation
- Dilated cerebral ventricles without hydrocephaly
- Hirsutism / hypertrichosis / Increased body hair
- Hypothyroidy
- Hypotonia
- Inguinal / inguinoscrotal / crural hernia
- Laryngomalacia
- Megacalicosis
- Mesomelic micromelia
- Metacarpal anomalies / Archibald's sign
- Microcornea
- Micrognathia / retrognathia / micrognathism / retrognathism
- Neoplasms / tumors
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Pes talus
- Polyhydramnios
- Radioulnar synostosis
- Sacrococcygeal teratoma
- Scoliosis
- Small foot
- Small hand / acromicria
- Strabismus / squint
- Talipes-varus / metatarsal varus
- Thin / hypoplastic / hyperconvex fingernails
- Upper limb polydactyly / hexadactyly
- Wormian bones