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Noonan syndrome-like disorder with loose anagen hair
1 OMIM reference -
1 associated gene
23 connected diseases
30 signs/symptoms
Disease Type of connection
Noonan syndrome
Costello syndrome
Linear nevus sebaceus syndrome
Juvenile myelomonocytic leukemia
Pilocytic astrocytoma
Phakomatosis pigmentokeratotica
Autoimmune lymphoproliferative syndrome
Cardiofaciocutaneous syndrome
Familial pancreatic carcinoma
Hereditary nonpolyposis colon cancer
LEOPARD syndrome
Large congenital melanocytic nevus
Intellectual deficit, X-linked, Turner type
Burkitt lymphoma
Precursor T-cell acute lymphoblastic leukemia
Estrogen resistance syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SHOC2 Q9UQ13602775
Very frequent
- Delayed bone age
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Low hair line (back)
- Low set ears / posteriorly rotated ears
- Short stature / dwarfism / nanism
- Short / small nose
- Webbed neck / pterygium colli

Frequent
- Absent / decreased / thin eyebrows
- Anteverted nares / nostrils
- Broad nose / nasal bridge
- Cardiomyopathy / hypertrophic / dilated
- Epicanthic folds
- Hydrocephaly
- Long / large ear
- Pectus excavatum
- Philtrum deeply grooved
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches

Occasional
- Elbow anomalies(excluding luxation)
- Hearing loss / hypoacusia / deafness
- High vaulted / narrow palate
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intervertebral disk anomaly
- Multiple caries
- Short hand / brachydactyly
- Thick lips
- Thin / hypoplastic toenails
- Thin / hypoplastic / hyperconvex fingernails
- Thin / retracted lips
- Undescended / ectopic testes / cryptorchidia / unfixed testes