Bachmann-bupp syndrome

Preferred Label : Bachmann-bupp syndrome;

Symbol : BABS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : NEDABA; Neurodevelopmental disorder with alopecia and brain abnormalities;

Prefixed ID : #619075;

Details

Origin ID

619075;

UMLS CUI

C5436741;

Currated CISMeF NLP mapping
- Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome (disorder) [SNOMED CT concept]
- Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome [ORDO Disease]
Genes related to phenotype
- Ornithine decarboxylase 1 [OMIM gene]
HPO term(s)
- Absent eyebrow [HPO term]
- Aggressive behavior [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Cerebral calcification [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Cryptorchidism [HPO term]
- Cupped ear [HPO term]
- Decreased fetal movement [HPO term]
- Deeply set eye [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Dilation of Virchow-Robin spaces [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dry skin [HPO term]
- Dysgenesis of the cerebellar vermis [HPO term]
- Feeding difficulties in infancy [HPO term]
- Focal polymicrogyria [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- Hyperbilirubinemia [HPO term]
- Hypertelorism [HPO term]
- Hypoglycemia [HPO term]
- Keratosis pilaris [HPO term]
- Large for gestational age [HPO term]
- Lower limb spasticity [HPO term]
- Macrocephaly [HPO term]
- Macrocephaly at birth [HPO term]
- Neonatal hypotonia [HPO term]
- Periventricular cysts [HPO term]
- Polyhydramnios [HPO term]
- Ptosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Small nail [HPO term]
- Sparse eyelashes [HPO term]
- Sparse scalp hair [HPO term]
- Thin upper lip vermilion [HPO term]
ORDO concept(s)
- Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome (disorder) [SNOMED CT concept]

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