TaoMedAI/RareMedData huggingface dataset:
Gene: NEMF
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY (OMIM:619099)
Gene: NEMF
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY (OMIM:619099)
Gene: NEMF
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY (OMIM:619099)
Gene: NEMF
Phenotype: Childhood onset (HP:0011463)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY (OMIM:619099)
Gene: DYRK1B
Phenotype: Stroke (HP:0001297)
Associated disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 3 (OMIM:615812)
Gene: DYRK1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 3 (OMIM:615812)
Gene: DYRK1B
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 3 (OMIM:615812)
Gene: DYRK1B
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 3 (OMIM:615812)
Gene: DYRK1B
Phenotype: Middle age onset (HP:0003596)
Associated disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 3 (OMIM:615812)
Gene: DYRK1B
Phenotype: Truncal obesity (HP:0001956)
Associated disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 3 (OMIM:615812)
Gene: DYRK1B
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 3 (OMIM:615812)
Gene: DYRK1B
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 3 (OMIM:615812)
Gene: DYRK1B
Phenotype: Young adult onset (HP:0011462)
Associated disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 3 (OMIM:615812)
Gene: DYRK1B
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 3 (OMIM:615812)
Gene: DYRK1B
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 3 (OMIM:615812)
Gene: DYRK1B
Phenotype: Hypertension (HP:0000822)
Associated disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 3 (OMIM:615812)
Gene: DYRK1B
Phenotype: Coronary artery stenosis (HP:0005145)
Associated disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 3 (OMIM:615812)
Gene: DYRK1B
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 3 (OMIM:615812)
Gene: CTDP1
Phenotype: Split hand (HP:0001171)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Motor delay (HP:0001270)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Ataxia (HP:0001251)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Ataxia (HP:0001251)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Dysmetria (HP:0001310)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Acute rhabdomyolysis (HP:0008942)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Acute rhabdomyolysis (HP:0008942)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Abnormality of the cervical spine (HP:0003319)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Intention tremor (HP:0002080)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Chorea (HP:0002072)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Chorea (HP:0002072)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Babinski sign (HP:0003487)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Paresthesia (HP:0003401)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Finger joint contracture (HP:0034681)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Malar prominence (HP:0010620)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Malar prominence (HP:0010620)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Peripheral hypomyelination (HP:0007182)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Peripheral hypomyelination (HP:0007182)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Short stature (HP:0004322)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Short stature (HP:0004322)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Peripheral axonal degeneration (HP:0000764)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Abnormality of peripheral nerve conduction (HP:0003134)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Axonal degeneration (HP:0040078)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Flexion contracture of toe (HP:0005830)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Kyphosis (HP:0002808)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Microcornea (HP:0000482)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Microcornea (HP:0000482)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Pes cavus (HP:0001761)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Cataract (HP:0000518)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: CTDP1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Gene: CTDP1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Gene: SLC6A5
Phenotype: Hypertonia (HP:0001276)
Associated disease: HYPEREKPLEXIA 3 (OMIM:614618)
Gene: SLC6A5
Phenotype: Hypertonia (HP:0001276)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: SLC6A5
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: SLC6A5
Phenotype: Syncope (HP:0001279)
Associated disease: HYPEREKPLEXIA 3 (OMIM:614618)
Gene: SLC6A5
Phenotype: Seizure (HP:0001250)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: SLC6A5
Phenotype: Ataxia (HP:0001251)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: SLC6A5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: SLC6A5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYPEREKPLEXIA 3 (OMIM:614618)
Gene: SLC6A5
Phenotype: Spasticity (HP:0001257)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: SLC6A5
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: SLC6A5
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: SLC6A5
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: HYPEREKPLEXIA 3 (OMIM:614618)
Gene: SLC6A5
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: SLC6A5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPEREKPLEXIA 3 (OMIM:614618)
Gene: SLC6A5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPEREKPLEXIA 3 (OMIM:614618)
Gene: SLC6A5
Phenotype: Myoclonus (HP:0001336)
Associated disease: HYPEREKPLEXIA 3 (OMIM:614618)
Gene: SLC6A5
Phenotype: Myoclonus (HP:0001336)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: SLC6A5
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: SLC6A5
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: HYPEREKPLEXIA 3 (OMIM:614618)
Gene: SLC6A5
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: SLC6A5
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: HYPEREKPLEXIA 3 (OMIM:614618)
Gene: SLC6A5
Phenotype: Respiratory arrest (HP:0005943)
Associated disease: HYPEREKPLEXIA 3 (OMIM:614618)
Gene: SLC6A5
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: HYPEREKPLEXIA 3 (OMIM:614618)
Gene: SLC6A5
Phenotype: Rigidity (HP:0002063)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: SLC6A5
Phenotype: Apnea (HP:0002104)
Associated disease: HYPEREKPLEXIA 3 (OMIM:614618)
Gene: SLC6A5
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: HYPEREKPLEXIA 3 (OMIM:614618)
Gene: SLC6A5
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: SLC6A5
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: HYPEREKPLEXIA 3 (OMIM:614618)
Gene: SLC6A5
Phenotype: Hernia (HP:0100790)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: SLC6A5
Phenotype: Fasciculations (HP:0002380)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: SLC6A5
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: SLC6A5
Phenotype: Esophagitis (HP:0100633)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: SLC6A5
Phenotype: Neonatal onset (HP:0003623)
Associated disease: HYPEREKPLEXIA 3 (OMIM:614618)
Gene: SLC6A5
Phenotype: Ventouse delivery (HP:0011412)
Associated disease: HYPEREKPLEXIA 3 (OMIM:614618)
Gene: SLC6A5
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: SLC6A5
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: SLC6A5
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: SLC6A5
Phenotype: Meconium stained amniotic fluid (HP:0012420)
Associated disease: HYPEREKPLEXIA 3 (OMIM:614618)
Gene: SLC28A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: URIDINE-CYTIDINEURIA (OMIM:618477)
Gene: SLC28A1
Phenotype: Elevated urinary cytidine (HP:0032573)
Associated disease: URIDINE-CYTIDINEURIA (OMIM:618477)
Gene: SLC28A1
Phenotype: Elevated urinary uridine level (HP:0032574)
Associated disease: URIDINE-CYTIDINEURIA (OMIM:618477)
Gene: FIBP
Phenotype: Large hands (HP:0001176)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Large hands (HP:0001176)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Abnormal thumb morphology (HP:0001172)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Transiently decreased total neutrophil count (HP:0410255)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Transiently decreased total neutrophil count (HP:0410255)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Persistently decreased total neutrophil count (HP:0410252)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Abnormal femoral torsion (HP:0031069)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Tall stature (HP:0000098)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Varicose veins (HP:0002619)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Varicose veins (HP:0002619)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Macroglossia (HP:0000158)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Macroglossia (HP:0000158)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Renal cyst (HP:0000107)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Midface retrusion (HP:0011800)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Renal malrotation (HP:0004712)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Renal malrotation (HP:0004712)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Congenital onset (HP:0003577)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)