Brachycephaly, deafness, cataract, microstomia, and impaired intellectual development

Preferred Label : Brachycephaly, deafness, cataract, microstomia, and impaired intellectual development;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Fine-lubinsky syndrome; Brachycephaly, deafness, cataract, microstomia, and mental retardation;

Inheritance : Autosomal recessive;

Prefixed ID : %601353;

Details

Origin ID

601353;

UMLS CUI

C0795941;

CISMeF manual mappings
- Fine Lubinsky syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Aymé-Gripp syndrome [ORDO Disease]
- Fine-Lubinsky syndrome [MeSH concept]
- Fine-Lubinsky syndrome [MeSH Supplementary Concept]
HPO term(s)
- Absent axillary hair [HPO term]
- All cases sporadic [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Breast hypoplasia [HPO term]
- Camptodactyly [HPO term]
- Cataract [HPO term]
- Cerebral atrophy [HPO term]
- Cleft palate [HPO term]
- Congenital vertical talus [HPO term]
- Cryptorchidism [HPO term]
- Deafness [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Finger clinodactyly [HPO term]
- Flat face [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Long eyelashes [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Megalocornea [HPO term]
- Microtia [HPO term]
- Narrow mouth [HPO term]
- Pectus excavatum of inferior sternum [HPO term]
- Posteriorly rotated ears [HPO term]
- Rocker bottom foot [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Shallow orbits [HPO term]
- Shawl scrotum [HPO term]
- Short nose [HPO term]
- Small scrotum [HPO term]
- Sporadic [HPO term]
- Superior pectus carinatum [HPO term]
- Tapered finger [HPO term]
- Thin upper lip vermilion [HPO term]
ORDO concept(s)
- Aymé-Gripp syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aymé-Gripp syndrome [ORDO Disease]
- Fine Lubinsky syndrome (disorder) [SNOMED CT concept]
- Fine-Lubinsky syndrome [MeSH Supplementary Concept]
- Fine-Lubinsky syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

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