Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities

Preferred Label : Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities;

Symbol : NECRC;

Type : Phenotype, molecular basis known;

Prefixed ID : #619522;

Détails

Origin ID

619522;

UMLS CUI

C5561984;

Genes related to phenotype
- Zinc finger, mym-type 2 [OMIM gene]
HPO term(s)
- Abnormality of the palmar creases [HPO term]
- Anteverted nares [HPO term]
- Atrial septal defect [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad nasal tip [HPO term]
- Broad neck [HPO term]
- Broad toe [HPO term]
- Bulbous nose [HPO term]
- Carious teeth [HPO term]
- Chordee [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Cryptorchidism [HPO term]
- Delayed speech and language development [HPO term]
- Downslanted palpebral fissures [HPO term]
- Downturned corners of mouth [HPO term]
- Dysphagia [HPO term]
- Enuresis [HPO term]
- Epicanthus [HPO term]
- Exaggerated startle response [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Grade III vesicoureteral reflux [HPO term]
- Growth delay [HPO term]
- Hematocolpos [HPO term]
- High hypermetropia [HPO term]
- High palate [HPO term]
- Hydrocele testis [HPO term]
- Hydronephrosis [HPO term]
- Hypermetropia [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic toenails [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Imperforate hymen [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, mild [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint hypermobility [HPO term]
- Long nose [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Microtia [HPO term]
- Narrow palpebral fissure [HPO term]
- Obstructive sleep apnea [HPO term]
- Patent ductus arteriosus [HPO term]
- Pelvic kidney [HPO term]
- Posteriorly rotated ears [HPO term]
- Psychosis [HPO term]
- Renal agenesis [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short 5th finger [HPO term]
- Short finger [HPO term]
- Short foot [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Short thumb [HPO term]
- Single transverse palmar crease [HPO term]
- Small earlobe [HPO term]
- Tapered finger [HPO term]
- Telecanthus [HPO term]
- Tethered cord [HPO term]
- Thick vermilion border [HPO term]
- Triangular face [HPO term]
- Ureteropelvic junction obstruction [HPO term]
- Urethral stricture [HPO term]
- Urinary incontinence [HPO term]
- Ventricular septal defect [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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