Developmental delay, impaired speech, and behavioral abnormalities

Preferred Label : Developmental delay, impaired speech, and behavioral abnormalities;

Symbol : DDISBA;

Type : Phenotype, molecular basis known;

Prefixed ID : #619475;

Details

Origin ID

619475;

UMLS CUI

C5561957;

Genes related to phenotype
- Spectrin, beta, nonerythrocytic, 1 [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Abnormal abdomen morphology [HPO term]
- Abnormal facial shape [HPO term]
- Abnormal placenta morphology [HPO term]
- Abnormality of head or neck [HPO term]
- Abnormality of movement [HPO term]
- Abnormality of skin pigmentation [HPO term]
- Abnormality of the cardiovascular system [HPO term]
- Abnormality of the curvature of the vertebral column [HPO term]
- Abnormality of the eye [HPO term]
- Abnormality of the integument [HPO term]
- Abnormality of the nervous system [HPO term]
- Abnormality of the skeletal system [HPO term]
- Absent speech [HPO term]
- Aggressive behavior [HPO term]
- Agitation [HPO term]
- Allergy [HPO term]
- Ankyloglossia [HPO term]
- Anteverted nares [HPO term]
- Anxiety [HPO term]
- Aortic aneurysm [HPO term]
- Aortic regurgitation [HPO term]
- Ataxia [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autism [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Back pain [HPO term]
- Behavioral abnormality [HPO term]
- Bicuspid aortic valve [HPO term]
- Bifid scrotum [HPO term]
- Bilateral sensorineural hearing impairment [HPO term]
- Bitemporal hollowing [HPO term]
- Breast mass [HPO term]
- Brisk reflexes [HPO term]
- Broad eyebrow [HPO term]
- Broad forehead [HPO term]
- Broad philtrum [HPO term]
- Broad-based gait [HPO term]
- Bruxism [HPO term]
- Bulbous nose [HPO term]
- Bursitis [HPO term]
- Cataract [HPO term]
- Cerebral palsy [HPO term]
- Chorioretinal coloboma [HPO term]
- Clonic seizure [HPO term]
- Clonus [HPO term]
- Coarse facial features [HPO term]
- Cognitive impairment [HPO term]
- Coloboma [HPO term]
- Congestive heart failure [HPO term]
- Constipation [HPO term]
- Cupped ear [HPO term]
- Decreased CSF 5-methyltetrahydrofolate concentration [HPO term]
- Decreased body weight [HPO term]
- Deeply set eye [HPO term]
- Delayed fine motor development [HPO term]
- Delayed myelination [HPO term]
- Delayed puberty [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal tip [HPO term]
- Depression [HPO term]
- Developmental regression [HPO term]
- Dilatation of the cerebral artery [HPO term]
- Diminished ability to concentrate [HPO term]
- Dolichocephaly [HPO term]
- Drooling [HPO term]
- Dyslexia [HPO term]
- Dystonia [HPO term]
- EEG abnormality [HPO term]
- Echolalia [HPO term]
- Elevated hepatic transaminase [HPO term]
- Emotional lability [HPO term]
- Failure to thrive [HPO term]
- Falls [HPO term]
- Fatigue [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Feeding difficulties [HPO term]
- Fever [HPO term]
- Focal-onset seizure [HPO term]
- Food allergy [HPO term]
- Full cheeks [HPO term]
- Genu valgum [HPO term]
- Global developmental delay [HPO term]
- Gynecomastia [HPO term]
- Head titubation [HPO term]
- Hearing impairment [HPO term]
- Heart murmur [HPO term]
- Hematuria [HPO term]
- Hepatic steatosis [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- Hoarse voice [HPO term]
- Hydrocephalus [HPO term]
- Hyperactivity [HPO term]
- Hyperbilirubinemia [HPO term]
- Hypertelorism [HPO term]
- Hypertonia [HPO term]
- Hypopigmentation of the skin [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Hypsarrhythmia [HPO term]
- Impaired social interactions [HPO term]
- Impulsivity [HPO term]
- Infantile spasms [HPO term]
- Intellectual disability [HPO term]
- Intention tremor [HPO term]
- Intrauterine growth retardation [HPO term]
- Iris coloboma [HPO term]
- Irritability [HPO term]
- Isometric tremor [HPO term]
- Jaundice [HPO term]
- Joint laxity [HPO term]
- Juvenile cataract [HPO term]
- Kyphosis [HPO term]
- Large fontanelles [HPO term]
- Laryngeal cleft [HPO term]
- Leukodystrophy [HPO term]
- Long palpebral fissure [HPO term]
- Macrocephaly [HPO term]
- Maternal hypertension [HPO term]
- Melanocytic nevus [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Motor delay [HPO term]
- Multifocal epileptiform discharges [HPO term]
- Narrow forehead [HPO term]
- Neurodegeneration [HPO term]
- Neurofibromas [HPO term]
- Neurological speech impairment [HPO term]
- Nevus [HPO term]
- Nocturnal seizures [HPO term]
- Nuchal cord [HPO term]
- Obesity [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Osteomyelitis [HPO term]
- Otitis media [HPO term]
- Oval face [HPO term]
- Overweight [HPO term]
- Palpebral edema [HPO term]
- Peripheral demyelination [HPO term]
- Persistent head lag [HPO term]
- Plagiocephaly [HPO term]
- Pointed chin [HPO term]
- Polyneuropathy [HPO term]
- Poor eye contact [HPO term]
- Poor suck [HPO term]
- Progressive spastic quadriplegia [HPO term]
- Prominent glabella [HPO term]
- Proptosis [HPO term]
- Protruding ear [HPO term]
- Recurrent ear infections [HPO term]
- Recurrent fever [HPO term]
- Recurrent infections [HPO term]
- Repetitive compulsive behavior [HPO term]
- Restrictive behavior [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short attention span [HPO term]
- Short nose [HPO term]
- Short philtrum [HPO term]
- Short uvula [HPO term]
- Single transverse palmar crease [HPO term]
- Sleep disturbance [HPO term]
- Smooth philtrum [HPO term]
- Spastic diplegia [HPO term]
- Spastic tetraplegia [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Suicidal ideation [HPO term]
- Synophrys [HPO term]
- Talipes equinovarus [HPO term]
- Tapered distal phalanges of finger [HPO term]
- Thick eyebrow [HPO term]
- Thick vermilion border [HPO term]
- Thin upper lip vermilion [HPO term]
- Tics [HPO term]
- Tip-toe gait [HPO term]
- Torticollis [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
- Violent behavior [HPO term]
- Visual loss [HPO term]
- Vomiting [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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