TaoMedAI/RareMedData huggingface dataset:
Gene: NFIA
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Tethered cord (HP:0002144)
Associated disease: Del(1)(p31p32); Monosomy 1p31p32; 1p31p32 microdeletion syndrome (ORPHA:401986)
Gene: NFIA
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Del(1)(p31p32); Monosomy 1p31p32; 1p31p32 microdeletion syndrome (ORPHA:401986)
Gene: NFIA
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Moyamoya phenomenon (HP:0011834)
Associated disease: Del(1)(p31p32); Monosomy 1p31p32; 1p31p32 microdeletion syndrome (ORPHA:401986)
Gene: NFIA
Phenotype: Infantile onset (HP:0003593)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Del(1)(p31p32); Monosomy 1p31p32; 1p31p32 microdeletion syndrome (ORPHA:401986)
Gene: NFIA
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: Del(1)(p31p32); Monosomy 1p31p32; 1p31p32 microdeletion syndrome (ORPHA:401986)
Gene: NFIA
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Del(1)(p31p32); Monosomy 1p31p32; 1p31p32 microdeletion syndrome (ORPHA:401986)
Gene: NFIA
Phenotype: Intraventricular hemorrhage (HP:0030746)
Associated disease: Del(1)(p31p32); Monosomy 1p31p32; 1p31p32 microdeletion syndrome (ORPHA:401986)
Gene: NFIA
Phenotype: Short nose (HP:0003196)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: Del(1)(p31p32); Monosomy 1p31p32; 1p31p32 microdeletion syndrome (ORPHA:401986)
Gene: NFIA
Phenotype: Broad face (HP:0000283)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Macrocephaly (HP:0000256)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Del(1)(p31p32); Monosomy 1p31p32; 1p31p32 microdeletion syndrome (ORPHA:401986)
Gene: NFIA
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Overfolded helix (HP:0000396)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Low-set ears (HP:0000369)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Broad forehead (HP:0000337)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Short chin (HP:0000331)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: Del(1)(p31p32); Monosomy 1p31p32; 1p31p32 microdeletion syndrome (ORPHA:401986)
Gene: NFIA
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFE2L2
Phenotype: Hypocystinemia (HP:0500152)
Associated disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (OMIM:617744)
Gene: NFE2L2
Phenotype: Hypohomocysteinemia (HP:0020222)
Associated disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (OMIM:617744)
Gene: NFE2L2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (OMIM:617744)
Gene: NFE2L2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (OMIM:617744)
Gene: NFE2L2
Phenotype: Tremor (HP:0001337)
Associated disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (OMIM:617744)
Gene: NFE2L2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (OMIM:617744)
Gene: NFE2L2
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (OMIM:617744)
Gene: NFE2L2
Phenotype: Decreased serum creatinine (HP:0012101)
Associated disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (OMIM:617744)
Gene: NFE2L2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (OMIM:617744)
Gene: NFE2L2
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (OMIM:617744)
Gene: NFE2L2
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (OMIM:617744)
Gene: NFE2L2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (OMIM:617744)
Gene: NFE2L2
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (OMIM:617744)
Gene: NFE2L2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (OMIM:617744)
Gene: NFE2L2
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (OMIM:617744)
Gene: NFE2L2
Phenotype: Headache (HP:0002315)
Associated disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (OMIM:617744)
Gene: NFE2L2
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (OMIM:617744)
Gene: NFE2L2
Phenotype: Short stature (HP:0004322)
Associated disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (OMIM:617744)
Gene: NFE2L2
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (OMIM:617744)
Gene: NFE2L2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (OMIM:617744)
Gene: NFE2L2
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (OMIM:617744)
Gene: NFE2L2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (OMIM:617744)
Gene: NFE2L2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (OMIM:617744)
Gene: NFE2L2
Phenotype: Growth delay (HP:0001510)
Associated disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (OMIM:617744)
Gene: NFE2L2
Phenotype: Hoarse voice (HP:0001609)
Associated disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (OMIM:617744)
Gene: NFE2L2
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (OMIM:617744)
Gene: NFE2L2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (OMIM:617744)
Gene: NFIB
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618286)
Gene: NFIB
Phenotype: Motor delay (HP:0001270)
Associated disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618286)
Gene: NFIB
Phenotype: Seizure (HP:0001250)
Associated disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618286)
Gene: NFIB
Phenotype: Hypotonia (HP:0001252)
Associated disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618286)
Gene: NFIB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618286)
Gene: NFIB
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618286)
Gene: NFIB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618286)
Gene: NFIB
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618286)
Gene: NFIB
Phenotype: Impulsivity (HP:0100710)
Associated disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618286)
Gene: NFIB
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618286)
Gene: NFIB
Phenotype: Probst bundles (HP:0034054)
Associated disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618286)
Gene: NFIB
Phenotype: Unilateral cryptorchidism (HP:0012741)
Associated disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618286)
Gene: NFIB
Phenotype: Anxiety (HP:0000739)
Associated disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618286)
Gene: NFIB
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618286)
Gene: NFIB
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618286)
Gene: NFIB
Phenotype: Autism (HP:0000717)
Associated disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618286)
Gene: NFIB
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618286)
Gene: NFIB
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618286)
Gene: NFIB
Phenotype: Long face (HP:0000276)
Associated disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618286)
Gene: NFIB
Phenotype: Long philtrum (HP:0000343)
Associated disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618286)
Gene: NFIB
Phenotype: High forehead (HP:0000348)
Associated disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618286)
Gene: NFIB
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618286)
Gene: NFIB
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618286)
Gene: NFIB
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618286)
Gene: NFIB
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618286)
Gene: NFIX
Phenotype: Short mandibular rami (HP:0003778)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Microtia (HP:0008551)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Sporadic (HP:0003745)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Long fingers (HP:0100807)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Long fingers (HP:0100807)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Hypertonia (HP:0001276)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Motor delay (HP:0001270)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Motor delay (HP:0001270)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Motor delay (HP:0001270)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Seizure (HP:0001250)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Hypotonia (HP:0001252)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Hypotonia (HP:0001252)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Slender finger (HP:0001238)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Distal widening of metacarpals (HP:0006048)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Death in childhood (HP:0003819)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Tall stature (HP:0000098)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Tall stature (HP:0000098)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Absent speech (HP:0001344)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Coxa valga (HP:0002673)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Pachygyria (HP:0001302)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Scoliosis (HP:0002650)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Scoliosis (HP:0002650)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Scoliosis (HP:0002650)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Scoliosis (HP:0002650)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Wormian bones (HP:0002645)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Open mouth (HP:0000194)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Narrow mouth (HP:0000160)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Glossoptosis (HP:0000162)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Cleft palate (HP:0000175)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Advanced eruption of teeth (HP:0006288)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Constipation (HP:0002019)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)