TaoMedAI/RareMedData huggingface dataset:
Gene: SOD1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Cachexia (HP:0004326)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Anxiety (HP:0000739)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Ankle clonus (HP:0011448)
Associated disease: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE (OMIM:618598)
Gene: SOD1
Phenotype: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: SOD1
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE (OMIM:618598)
Gene: SOD1
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE (OMIM:618598)
Gene: SOD1
Phenotype: Low-set ears (HP:0000369)
Associated disease: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE (OMIM:618598)
Gene: SOD1
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Overlapping toe (HP:0001845)
Associated disease: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE (OMIM:618598)
Gene: SOD1
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CAPN15
Phenotype: Simple ear (HP:0020206)
Associated disease: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME (OMIM:619318)
Gene: CAPN15
Phenotype: Global developmental delay (HP:0001263)
Associated disease: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME (OMIM:619318)
Gene: CAPN15
Phenotype: Laryngeal cleft (HP:0008751)
Associated disease: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME (OMIM:619318)
Gene: CAPN15
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME (OMIM:619318)
Gene: CAPN15
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME (OMIM:619318)
Gene: CAPN15
Phenotype: Unilateral ptosis (HP:0007687)
Associated disease: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME (OMIM:619318)
Gene: CAPN15
Phenotype: Bilateral microphthalmos (HP:0007633)
Associated disease: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME (OMIM:619318)
Gene: CAPN15
Phenotype: Anal atresia (HP:0002023)
Associated disease: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME (OMIM:619318)
Gene: CAPN15
Phenotype: Congenital onset (HP:0003577)
Associated disease: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME (OMIM:619318)
Gene: CAPN15
Phenotype: Hirsutism (HP:0001007)
Associated disease: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME (OMIM:619318)
Gene: CAPN15
Phenotype: Low hanging columella (HP:0009765)
Associated disease: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME (OMIM:619318)
Gene: CAPN15
Phenotype: Short stature (HP:0004322)
Associated disease: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME (OMIM:619318)
Gene: CAPN15
Phenotype: Vaginal fistula (HP:0004320)
Associated disease: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME (OMIM:619318)
Gene: CAPN15
Phenotype: Autistic behavior (HP:0000729)
Associated disease: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME (OMIM:619318)
Gene: CAPN15
Phenotype: Unilateral microphthalmos (HP:0011480)
Associated disease: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME (OMIM:619318)
Gene: CAPN15
Phenotype: Sacral dimple (HP:0000960)
Associated disease: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME (OMIM:619318)
Gene: CAPN15
Phenotype: Microcephaly (HP:0000252)
Associated disease: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME (OMIM:619318)
Gene: CAPN15
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME (OMIM:619318)
Gene: CAPN15
Phenotype: Dysphonia (HP:0001618)
Associated disease: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME (OMIM:619318)
Gene: CAPN15
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME (OMIM:619318)
Gene: CAPN15
Phenotype: Coloboma (HP:0000589)
Associated disease: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME (OMIM:619318)
Gene: SON
Phenotype: Fetal distress (HP:0025116)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Seizure (HP:0001250)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Hypotonia (HP:0001252)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Gastroparesis (HP:0002578)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Spasticity (HP:0001257)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Spasticity (HP:0001257)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Auditory hallucination (HP:0008765)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Abnormal cerebral cortex morphology (HP:0002538)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Scoliosis (HP:0002650)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Bifid uvula (HP:0000193)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Bifid uvula (HP:0000193)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Narrow mouth (HP:0000160)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Cleft palate (HP:0000175)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Floppy infant (HP:0008947)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Polyuria (HP:0000103)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Recurrent infections (HP:0002719)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Dysphagia (HP:0002015)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Frontal bossing (HP:0002007)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Frontal bossing (HP:0002007)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Submucous cleft soft palate (HP:0011819)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Midface retrusion (HP:0011800)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Emphysema (HP:0002097)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
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 crawl (HP:0033128)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Hyperextensibility at elbow (HP:0010485)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Status epilepticus (HP:0002133)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Infantile onset (HP:0003593)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Curly hair (HP:0002212)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Curly hair (HP:0002212)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Abnormal common carotid artery morphology (HP:0430021)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Proportionate short stature (HP:0003508)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Developmental regression (HP:0002376)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Developmental regression (HP:0002376)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Small hand (HP:0200055)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Absent thumb (HP:0009777)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Progressive ventriculomegaly (HP:0007100)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Chiari malformation (HP:0002308)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Nystagmus (HP:0000639)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Optic atrophy (HP:0000648)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Optic atrophy (HP:0000648)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (ORPHA:500150)
Gene: SON
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: ZTTK SYNDROME (OMIM:617140)
Gene: SON
Phenotype: Short stature (HP:0004322)
Associated disease: ZTTK SYNDROME (OMIM:617140)