TaoMedAI/RareMedData huggingface dataset:
Gene: SAT1
Phenotype: Proteinuria (HP:0000093)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Lupus anticoagulant (HP:0025343)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Arthritis (HP:0001369)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: SAT1
Phenotype: Malar rash (HP:0025300)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Oral ulcer (HP:0000155)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Nephritis (HP:0000123)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Dark urine (HP:0040319)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Diarrhea (HP:0002014)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Vomiting (HP:0002013)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Dyspnea (HP:0002094)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Pleural effusion (HP:0002202)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: SAT1
Phenotype: Progressive alopecia (HP:0002287)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: SAT1
Phenotype: Chest pain (HP:0100749)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: SAT1
Phenotype: Facial erythema (HP:0001041)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: SAT1
Phenotype: Headache (HP:0002315)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Folliculitis (HP:0025084)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: SAT1
Phenotype: Myositis (HP:0100614)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: SAT1
Phenotype: Hemiplegia (HP:0002301)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Antiphospholipid antibody positivity (HP:0003613)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Photophobia (HP:0000613)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: SAT1
Phenotype: Fever (HP:0001945)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Microangiopathic hemolytic anemia (HP:0001937)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: SAT1
Phenotype: Reduced consciousness (HP:0004372)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Psychosis (HP:0000709)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Hematuria (HP:0000790)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Scarring alopecia of scalp (HP:0004552)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: SAT1
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Hyperkeratotic papule (HP:0045059)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: SAT1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: SAT1
Phenotype: Pruritus (HP:0000989)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: SAT1
Phenotype: Skin rash (HP:0000988)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: SAT1
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Edema (HP:0000969)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Alopecia (HP:0001596)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Arthralgia (HP:0002829)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Ascites (HP:0001541)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Blepharitis (HP:0000498)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: SAT1
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: SAT1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SATB1
Phenotype: Abnormality of prenatal development or birth (HP:0001197)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Motor delay (HP:0001270)
Associated disease: DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES (OMIM:619228)
Gene: SATB1
Phenotype: Motor delay (HP:0001270)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES (OMIM:619228)
Gene: SATB1
Phenotype: Seizure (HP:0001250)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES (OMIM:619228)
Gene: SATB1
Phenotype: Hypotonia (HP:0001252)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Ataxia (HP:0001251)
Associated disease: DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES (OMIM:619228)
Gene: SATB1
Phenotype: Ataxia (HP:0001251)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES (OMIM:619228)
Gene: SATB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Dysarthria (HP:0001260)
Associated disease: DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES (OMIM:619228)
Gene: SATB1
Phenotype: Dysarthria (HP:0001260)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES (OMIM:619228)
Gene: SATB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Spasticity (HP:0001257)
Associated disease: DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES (OMIM:619228)
Gene: SATB1
Phenotype: Spasticity (HP:0001257)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Inability to walk (HP:0002540)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Absent speech (HP:0001344)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Tremor (HP:0001337)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES (OMIM:619228)
Gene: SATB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Myoclonus (HP:0001336)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Scoliosis (HP:0002650)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Yellow-brown discoloration of the teeth (HP:0006286)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Constipation (HP:0002019)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Dysphagia (HP:0002015)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Lactose intolerance (HP:0004789)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES (OMIM:619228)
Gene: SATB1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES (OMIM:619228)
Gene: SATB1
Phenotype: Developmental regression (HP:0002376)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES (OMIM:619228)
Gene: SATB1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Small hand (HP:0200055)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Drooling (HP:0002307)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Developmental stagnation at onset of seizures (HP:0006834)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Carious teeth (HP:0000670)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Decreased body weight (HP:0004325)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Nocturnal seizures (HP:0031951)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Ventouse delivery (HP:0011412)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Caesarean section (HP:0011410)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Short attention span (HP:0000736)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES (OMIM:619228)
Gene: SATB1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Autism (HP:0000717)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Agitation (HP:0000713)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES (OMIM:619228)
Gene: SATB1
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Death in adolescence (HP:0011421)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Dry skin (HP:0000958)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES (OMIM:619228)
Gene: SATB1
Phenotype: Microcephaly (HP:0000252)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Overweight (HP:0025502)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Maintenance insomnia (HP:0031355)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Obesity (HP:0001513)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Widow's peak (HP:0000349)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: High forehead (HP:0000348)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Premature birth (HP:0001622)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: EEG with focal spike waves (HP:0011197)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Focal myoclonic seizure (HP:0011166)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Short foot (HP:0001773)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Sandal gap (HP:0001852)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SATB1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Gene: SBF1
Phenotype: Syndactyly (HP:0001159)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (OMIM:615284)
Gene: SBF1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (OMIM:615284)
Gene: SBF1
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (OMIM:615284)
Gene: SBF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (OMIM:615284)
Gene: SBF1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (OMIM:615284)
Gene: SBF1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (OMIM:615284)
Gene: SBF1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (OMIM:615284)
Gene: SBF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (OMIM:615284)
Gene: SBF1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (OMIM:615284)
Gene: SBF1
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (OMIM:615284)
Gene: SBF1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (OMIM:615284)
Gene: SBF1
Phenotype: Muscle fibrillation (HP:0010546)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (OMIM:615284)
Gene: SBF1
Phenotype: Progressive (HP:0003676)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (OMIM:615284)
Gene: SBF1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (OMIM:615284)
Gene: SBF1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (OMIM:615284)
Gene: SBF1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (OMIM:615284)