TaoMedAI/RareMedData huggingface dataset:
Gene: NFIX
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Migraine (HP:0002076)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Episodic ataxia (HP:0002131)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Apnea (HP:0002104)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Atlantoaxial dislocation (HP:0003414)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Brittle hair (HP:0002299)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Hyperplasia of the premaxilla (HP:0430029)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Cervical cord compression (HP:0002341)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Bullet-shaped middle phalanges of the hand (HP:0009845)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Bilateral conductive hearing impairment (HP:0008513)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Protruding tongue (HP:0010808)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Cholesteatoma (HP:0009797)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Prominence of the premaxilla (HP:0010759)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Drooling (HP:0002307)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Nystagmus (HP:0000639)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Nystagmus (HP:0000639)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Amblyopia (HP:0000646)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Microdontia (HP:0000691)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Synophrys (HP:0000664)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Decreased body weight (HP:0004325)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Short stature (HP:0004322)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Unilateral cryptorchidism (HP:0012741)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Irritability (HP:0000737)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Anxiety (HP:0000739)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Anxiety (HP:0000739)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Autistic behavior (HP:0000729)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Childhood onset (HP:0011463)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Slender long bone (HP:0003100)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Slender long bone (HP:0003100)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Slender long bone (HP:0003100)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Short nose (HP:0003196)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Short nose (HP:0003196)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Short nose (HP:0003196)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Inverted nipples (HP:0003186)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Decreased hip abduction (HP:0003184)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Short sternum (HP:0000879)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Hypertension (HP:0000822)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Irregular dentition (HP:0040079)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Stridor (HP:0010307)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Thin skin (HP:0000963)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Sparse hair (HP:0008070)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Epicanthus (HP:0000286)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Retrognathia (HP:0000278)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Retrognathia (HP:0000278)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Retrognathia (HP:0000278)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Macrocephaly (HP:0000256)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Narrow face (HP:0000275)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Narrow face (HP:0000275)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Long face (HP:0000276)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Long face (HP:0000276)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Prominent occiput (HP:0000269)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Optic disc hypoplasia (HP:0007766)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Coxa vara (HP:0002812)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Kyphosis (HP:0002808)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Microcephaly (HP:0000252)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Overgrowth (HP:0001548)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: High palate (HP:0000218)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: High palate (HP:0000218)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Omphalocele (HP:0001539)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Hip subluxation (HP:0030043)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Growth delay (HP:0001510)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Overfolded helix (HP:0000396)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Airway obstruction (HP:0006536)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Dysplastic aortic valve (HP:0005176)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: High myopia (HP:0011003)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Low-set ears (HP:0000369)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Low-set ears (HP:0000369)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NFIX
Phenotype: Broad forehead (HP:0000337)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: High forehead (HP:0000348)
Associated disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Gene: NFIX
Phenotype: High forehead (HP:0000348)
Associated disease: SOTOS SYNDROME 2 (OMIM:614753)
Gene: NFIX
Phenotype: High forehead (HP:0000348)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Micrognathia (HP:0000347)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)
Gene: NFIX
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Gene: NFIX
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Gene: NFIX
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NFIX
Phenotype: Short philtrum (HP:0000322)
Associated disease: Dup(19)(p13.3); 19p13.3 microduplication syndrome (ORPHA:447980)