TaoMedAI/RareMedData huggingface dataset:
Gene: SON
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Hyperextensible hand joints (HP:0005639)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Autistic behavior (HP:0000729)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Autistic behavior (HP:0000729)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Absent gallbladder (HP:0011467)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Absent gallbladder (HP:0011467)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Sagittal craniosynostosis (HP:0004442)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Secretory IgA deficiency (HP:0004433)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Slender long bone (HP:0003100)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Short nose (HP:0003196)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Short nose (HP:0003196)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Cerebellar hemisphere hypoplasia (HP:0100307)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Rib fusion (HP:0000902)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Rib fusion (HP:0000902)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Unilateral lung agenesis (HP:0030707)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Unilateral lung agenesis (HP:0030707)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Cervical ribs (HP:0000891)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Cervical ribs (HP:0000891)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Patent ductus arteriosus after birth at term (HP:0011648)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Epicanthus (HP:0000286)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Epicanthus (HP:0000286)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Full cheeks (HP:0000293)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Full cheeks (HP:0000293)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Macrocephaly (HP:0000256)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Kyphosis (HP:0002808)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Respiratory failure (HP:0002878)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: High palate (HP:0000218)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Failure to thrive (HP:0001508)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Growth delay (HP:0001510)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Low-set ears (HP:0000369)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Low-set ears (HP:0000369)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Narrow forehead (HP:0000341)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Narrow forehead (HP:0000341)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Short philtrum (HP:0000322)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Short philtrum (HP:0000322)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Breech presentation (HP:0001623)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Broad lateral eyebrow (HP:0007933)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Delayed ability to roll over (HP:0032989)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Strabismus (HP:0000486)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Strabismus (HP:0000486)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Deeply set eye (HP:0000490)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Deeply set eye (HP:0000490)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Short foot (HP:0001773)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Intestinal atresia (HP:0011100)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Protruding ear (HP:0000411)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Protruding ear (HP:0000411)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Bilateral renal dysplasia (HP:0012582)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Exotropia (HP:0000577)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Blue sclerae (HP:0000592)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Broad eyebrow (HP:0011229)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Prominent forehead (HP:0011220)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Prominent forehead (HP:0011220)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Esotropia (HP:0000565)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Hypermetropia (HP:0000540)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Hypermetropia (HP:0000540)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Myopia (HP:0000545)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SORD
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY (OMIM:618912)
Gene: SORD
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY (OMIM:618912)
Gene: SORD
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY (OMIM:618912)
Gene: SORD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY (OMIM:618912)
Gene: SORD
Phenotype: Scoliosis (HP:0002650)
Associated disease: SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY (OMIM:618912)
Gene: SORD
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY (OMIM:618912)
Gene: SORD
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY (OMIM:618912)
Gene: SORD
Phenotype: Increased serum sorbitol concentration (HP:0033124)
Associated disease: SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY (OMIM:618912)
Gene: SORD
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY (OMIM:618912)
Gene: SORD
Phenotype: Decreased amplitude of sensory action potentials (HP:0007078)
Associated disease: SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY (OMIM:618912)
Gene: SORD
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY (OMIM:618912)
Gene: SORD
Phenotype: Pes cavus (HP:0001761)
Associated disease: SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY (OMIM:618912)
Gene: SORL1
Phenotype: Language impairment (HP:0002463)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: SORL1
Phenotype: Deposits immunoreactive to beta-amyloid protein (HP:0003791)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: SORL1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: SORL1
Phenotype: Confusion (HP:0001289)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: SORL1
Phenotype: Seizure (HP:0001250)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: SORL1
Phenotype: Ataxia (HP:0001251)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: SORL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: SORL1
Phenotype: Myoclonus (HP:0001336)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: SORL1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: SORL1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: SORL1
Phenotype: Apraxia (HP:0002186)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: SORL1
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: SORL1
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: SORL1
Phenotype: Finger agnosia (HP:0010525)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: SORL1
Phenotype: Aphasia (HP:0002381)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: SORL1
Phenotype: Memory impairment (HP:0002354)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: SORL1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: SORL1
Phenotype: Hallucinations (HP:0000738)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: SORL1
Phenotype: Disinhibition (HP:0000734)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: SORL1
Phenotype: Agitation (HP:0000713)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: SORL1
Phenotype: Dementia (HP:0000726)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: SORL1
Phenotype: Abnormality of mental function (HP:0011446)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: SORL1
Phenotype: Neurodevelopmental abnormality (HP:0012759)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: SORL1
Phenotype: Semantic dementia (HP:0030219)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: SORL1
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)