Developmental and epileptic encephalopathy 85 with or without midline brain defects

Preferred Label : Developmental and epileptic encephalopathy 85 with or without midline brain defects;

Symbol : DEE85;

CISMeF acronym : EIEE85;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EIEE85; Epileptic encephalopathy, early infantile, 85, with or without midline brain defects;

Prefixed ID : #301044;

Details

Origin ID

301044;

UMLS CUI

C5393312;

Genes related to phenotype
- Structural maintenance of chromosomes 1a [OMIM gene]
HPO term(s)
- 1-2 toe syndactyly [HPO term]
- Absent speech [HPO term]
- Anteverted nares [HPO term]
- Atrial septal defect [HPO term]
- Autistic behavior [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Broad hallux [HPO term]
- Camptodactyly [HPO term]
- Choanal atresia [HPO term]
- Cleft palate [HPO term]
- Clinodactyly [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Congenital onset [HPO term]
- Contracture of the proximal interphalangeal joint of the 3rd finger [HPO term]
- Deeply set eye [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Dental crowding [HPO term]
- Downslanted palpebral fissures [HPO term]
- Downturned corners of mouth [HPO term]
- EEG abnormality [HPO term]
- Facial asymmetry [HPO term]
- Focal-onset seizure [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Highly arched eyebrow [HPO term]
- Hip dysplasia [HPO term]
- Hirsutism [HPO term]
- Hypertonia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotelorism [HPO term]
- Hypsarrhythmia [HPO term]
- Infantile spasms [HPO term]
- Intrauterine growth retardation [HPO term]
- Low anterior hairline [HPO term]
- Microcephaly [HPO term]
- Midface retrusion [HPO term]
- Multifocal seizures [HPO term]
- Narrow forehead [HPO term]
- Narrow nose [HPO term]
- Overfolded helix [HPO term]
- Partial anomalous pulmonary venous return [HPO term]
- Poor eye contact [HPO term]
- Posteriorly rotated ears [HPO term]
- Retrognathia [HPO term]
- Round face [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Seizure cluster [HPO term]
- Semilobar holoprosencephaly [HPO term]
- Severe global developmental delay [HPO term]
- Short foot [HPO term]
- Short nose [HPO term]
- Short philtrum [HPO term]
- Small hand [HPO term]
- Smooth philtrum [HPO term]
- Solitary median maxillary central incisor [HPO term]
- Spastic tetraparesis [HPO term]
- Synophrys [HPO term]
- Talipes [HPO term]
- Tapered finger [HPO term]
- Thin upper lip vermilion [HPO term]
- Triangular face [HPO term]
- Unilateral ptosis [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
- Widely spaced teeth [HPO term]
- X-linked dominant inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental and Epileptic Encephalopathy 85 with or without Midline Brain Defects [NCIt concept]

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