TaoMedAI/RareMedData huggingface dataset:
Gene: SPTBN1
Phenotype: Abnormality of head or neck (HP:0000152)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Food allergy (HP:0500093)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Recurrent ear infections (HP:0410018)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Abnormal abdomen morphology (HP:0001438)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Constipation (HP:0002019)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Poor suck (HP:0002033)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Vomiting (HP:0002013)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Palpebral edema (HP:0100540)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Intention tremor (HP:0002080)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Prominent glabella (HP:0002057)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Broad-based gait (HP:0002136)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Back pain (HP:0003418)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Clonus (HP:0002169)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Echolalia (HP:0010529)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Dyslexia (HP:0010522)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Impulsivity (HP:0100710)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Abnormal placenta morphology (HP:0100767)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Abnormal curvature of the vertebral column (HP:0010674)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Neurofibroma (HP:0001067)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Short uvula (HP:0010812)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Drooling (HP:0002307)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Fever (HP:0001945)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Recurrent fever (HP:0001954)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Synophrys (HP:0000664)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Decreased body weight (HP:0004325)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Nocturnal seizures (HP:0031951)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Diminished ability to concentrate (HP:0031987)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Gynecomastia (HP:0000771)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Tics (HP:0100033)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Irritability (HP:0000737)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Anxiety (HP:0000739)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Short attention span (HP:0000736)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Depression (HP:0000716)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Autism (HP:0000717)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Emotional lability (HP:0000712)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Agitation (HP:0000713)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Restrictive behavior (HP:0000723)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Hematuria (HP:0000790)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Short nose (HP:0003196)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Ankyloglossia (HP:0010296)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Jaundice (HP:0000952)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Maternal hypertension (HP:0008071)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Full cheeks (HP:0000293)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Broad philtrum (HP:0000289)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Kyphosis (HP:0002808)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Abnormality of the integument (HP:0001574)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Large fontanelles (HP:0000239)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: High palate (HP:0000218)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Overweight (HP:0025502)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Genu valgum (HP:0002857)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Obesity (HP:0001513)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Allergy (HP:0012393)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Fatigue (HP:0012378)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Cupped ear (HP:0000378)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Otitis media (HP:0000388)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Isometric tremor (HP:0030185)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Broad forehead (HP:0000337)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: High forehead (HP:0000348)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Heart murmur (HP:0030148)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Short philtrum (HP:0000322)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Pointed chin (HP:0000307)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Oval face (HP:0000300)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Nuchal cord (HP:0012498)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Persistent head lag (HP:0032988)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Strabismus (HP:0000486)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Decreased CSF 5-methyltetrahydrofolate concentration (HP:0012446)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Torticollis (HP:0000473)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Suicidal ideation (HP:0031589)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Protruding ear (HP:0000411)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Cataract (HP:0000518)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Proptosis (HP:0000520)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Broad eyebrow (HP:0011229)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Coloboma (HP:0000589)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Visual loss (HP:0000572)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN2
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Gene: SPTBN2
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Gene: SPTBN2
Phenotype: Horizontal jerk nystagmus (HP:0007286)
Associated disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Gene: SPTBN2
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: SCAR14; SPARCA1; Autosomal recessive spinocerebellar ataxia type 14; SPARCA; Spectrin-associated autosomal recessive cerebellar ataxia type 1; Spectrin-associated autosomal recessive cerebellar ataxia; Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome (ORPHA:352403)
Gene: SPTBN2
Phenotype: Poor head control (HP:0002421)
Associated disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Gene: SPTBN2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 (OMIM:615386)
Gene: SPTBN2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Gene: SPTBN2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Spinocerebellar ataxia type 5; SCA5 (ORPHA:98766)