Neurodevelopmental disorder with hypotonia and dysmorphic facies

Preferred Label : Neurodevelopmental disorder with hypotonia and dysmorphic facies;

Symbol : NEDHYDF;

Type : Phenotype, molecular basis known;

Prefixed ID : #619503;

Détails

Origin ID

619503;

UMLS CUI

C5561974;

Genes related to phenotype
- Guanine nucleotide-binding protein, beta-2 [OMIM gene]
HPO term(s)
- Agenesis of permanent teeth [HPO term]
- Apnea [HPO term]
- Arthralgia [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Ascending aorta hypoplasia [HPO term]
- Aspiration [HPO term]
- Asthma [HPO term]
- Atonic seizure [HPO term]
- Atopic dermatitis [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant germline de novo mutation [HPO term]
- Blue sclerae [HPO term]
- Brachycephaly [HPO term]
- Broad-based gait [HPO term]
- Bruxism [HPO term]
- Cholestasis [HPO term]
- Chronic constipation [HPO term]
- Chronic otitis media [HPO term]
- Cleft soft palate [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Congenital Horner syndrome [HPO term]
- Cryptorchidism [HPO term]
- Curly hair [HPO term]
- Cutis laxa [HPO term]
- Decreased fetal movement [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Deep philtrum [HPO term]
- Deeply set eye [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed eruption of teeth [HPO term]
- Delayed speech and language development [HPO term]
- Dental crowding [HPO term]
- Depressed nasal bridge [HPO term]
- Diaphragmatic eventration [HPO term]
- Dolichocephaly [HPO term]
- Double outlet right ventricle [HPO term]
- Downturned corners of mouth [HPO term]
- Dry skin [HPO term]
- Dysphagia [HPO term]
- EEG abnormality [HPO term]
- Echogenic fetal bowel [HPO term]
- Elbow flexion contracture [HPO term]
- Enamel hypoplasia [HPO term]
- Erythema [HPO term]
- Esophageal varix [HPO term]
- Exotropia [HPO term]
- Facial erythema [HPO term]
- Failure to thrive [HPO term]
- Falls [HPO term]
- Feeding difficulties [HPO term]
- Fetal ascites [HPO term]
- Few cafe-au-lait spots [HPO term]
- Flexion contracture [HPO term]
- Focal impaired awareness seizure [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Frontal bossing [HPO term]
- Full cheeks [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Headache [HPO term]
- Hemolytic anemia [HPO term]
- Hepatic steatosis [HPO term]
- Hepatosplenomegaly [HPO term]
- High anterior hairline [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- Hip contracture [HPO term]
- Hip subluxation [HPO term]
- Hirsutism [HPO term]
- Horizontal eyebrow [HPO term]
- Hyperextensibility of the finger joints [HPO term]
- Hyperlordosis [HPO term]
- Hypermetropia [HPO term]
- Hyperreflexia [HPO term]
- Hypocalcemia [HPO term]
- Hypomagnesemia [HPO term]
- Hypoplastic aortic arch [HPO term]
- Hypoplastic left heart [HPO term]
- Hypotelorism [HPO term]
- Hypotonia [HPO term]
- Ichthyosis [HPO term]
- Impulsivity [HPO term]
- Infantile onset [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Internally rotated shoulders [HPO term]
- Ischemic stroke [HPO term]
- Joint laxity [HPO term]
- Joint swelling [HPO term]
- Keratosis pilaris [HPO term]
- Knee flexion contracture [HPO term]
- Large forehead [HPO term]
- Long eyelashes [HPO term]
- Long palpebral fissure [HPO term]
- Low frustration tolerance [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Macrotia [HPO term]
- Mandibular prognathia [HPO term]
- Medial flaring of the eyebrow [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Mild global developmental delay [HPO term]
- Mitral atresia [HPO term]
- Multiple joint dislocation [HPO term]
- Muscular ventricular septal defect [HPO term]
- Narrow forehead [HPO term]
- Narrow mouth [HPO term]
- Nasogastric tube feeding [HPO term]
- Neonatal respiratory distress [HPO term]
- Oligohydramnios [HPO term]
- Pelvic kidney [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Periventricular white matter hyperintensities [HPO term]
- Persistent left superior vena cava [HPO term]
- Pes valgus [HPO term]
- Poor suck [HPO term]
- Portal hypertension [HPO term]
- Prominent nasolabial fold [HPO term]
- Prominent nose [HPO term]
- Recurrent otitis media [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Sacral dimple [HPO term]
- Scaling skin [HPO term]
- Seizure [HPO term]
- Short middle phalanx of the 5th finger [HPO term]
- Short nose [HPO term]
- Single transverse palmar crease [HPO term]
- Single umbilical artery [HPO term]
- Slender finger [HPO term]
- Small pituitary gland [HPO term]
- Sparse scalp hair [HPO term]
- Stereotypical body rocking [HPO term]
- Subvalvular aortic stenosis [HPO term]
- Synophrys [HPO term]
- Tapered finger [HPO term]
- Telecanthus [HPO term]
- Thick eyebrow [HPO term]
- Thin upper lip vermilion [HPO term]
- Thoracic hypertrichosis [HPO term]
- Thoracolumbar scoliosis [HPO term]
- Thyroid hypoplasia [HPO term]
- Tip-toe gait [HPO term]
- Transposition of the great arteries [HPO term]
- Unicornuate uterus [HPO term]
- Unilateral renal agenesis [HPO term]
- Upslanted palpebral fissure [HPO term]
- Urinary urgency [HPO term]
- Urticaria [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
- Wide intermamillary distance [HPO term]
- Wide mouth [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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