TaoMedAI/RareMedData huggingface dataset:
Gene: FIBP
Phenotype: Tibial torsion (HP:0100694)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Pedal edema (HP:0010741)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Proportionate tall stature (HP:0011407)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Epicanthus (HP:0000286)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Epicanthus (HP:0000286)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Macrocephaly (HP:0000256)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Overgrowth (HP:0001548)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Bifid ureter (HP:0030037)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Bifid ureter (HP:0030037)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Large for gestational age (HP:0001520)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Large for gestational age (HP:0001520)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Camptodactyly (HP:0012385)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Tibial bowing (HP:0002982)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Hypertelorism (HP:0000316)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Round face (HP:0000311)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Round face (HP:0000311)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Macrotia (HP:0000400)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Macrotia (HP:0000400)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Abnormal right ventricle morphology (HP:0001707)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Astigmatism (HP:0000483)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Strabismus (HP:0000486)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Strabismus (HP:0000486)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Deeply set eye (HP:0000490)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Pes planus (HP:0001763)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Protruding ear (HP:0000411)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Protruding ear (HP:0000411)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Cataract (HP:0000518)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Long hallux (HP:0001847)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Long hallux (HP:0001847)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Long foot (HP:0001833)
Associated disease: Thauvin-Robinet-Faivre syndrome; Tall stature-intellectual disability-renal anomalies syndrome (ORPHA:500095)
Gene: FIBP
Phenotype: Long foot (HP:0001833)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: FIBP
Phenotype: Coloboma (HP:0000589)
Associated disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Gene: AP4M1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Poor speech (HP:0002465)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Excessive shyness (HP:0100962)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Seizure (HP:0001250)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Seizure (HP:0001250)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Hypotonia (HP:0001252)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Ataxia (HP:0001251)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Spasticity (HP:0001257)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Waddling gait (HP:0002515)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Acetabular dysplasia (HP:0008807)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Dystonia (HP:0001332)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Wide mouth (HP:0000154)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Wide mouth (HP:0000154)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Babinski sign (HP:0003487)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Gliosis (HP:0002171)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Pseudobulbar signs (HP:0002200)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Everted upper lip vermilion (HP:0010803)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Drooling (HP:0002307)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Drooling (HP:0002307)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Amblyopia (HP:0000646)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Short stature (HP:0004322)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Wide nasal ridge (HP:0012811)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Microcephaly (HP:0000252)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Microcephaly (HP:0000252)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: High palate (HP:0000218)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: High palate (HP:0000218)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Overweight (HP:0025502)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Short philtrum (HP:0000322)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Short philtrum (HP:0000322)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Strabismus (HP:0000486)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Strabismus (HP:0000486)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Pes planus (HP:0001763)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4M1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: AP4M1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Gene: OSMR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 (OMIM:105250)
Gene: OSMR
Phenotype: Lichenification (HP:0100725)
Associated disease: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 (OMIM:105250)
Gene: OSMR
Phenotype: Childhood onset (HP:0011463)
Associated disease: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 (OMIM:105250)
Gene: OSMR
Phenotype: Pruritus (HP:0000989)
Associated disease: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 (OMIM:105250)
Gene: OSMR
Phenotype: Dry skin (HP:0000958)
Associated disease: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 (OMIM:105250)
Gene: OSMR
Phenotype: Scaling skin (HP:0040189)
Associated disease: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 (OMIM:105250)
Gene: OSMR
Phenotype: Cutaneous amyloidosis (HP:0012309)
Associated disease: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 (OMIM:105250)
Gene: ARHGEF2
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)
Gene: ARHGEF2
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)
Gene: ARHGEF2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)
Gene: ARHGEF2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)
Gene: ARHGEF2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)
Gene: ARHGEF2
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)
Gene: ARHGEF2
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)
Gene: ARHGEF2
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)
Gene: ARHGEF2
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)
Gene: ARHGEF2
Phenotype: Frequent falls (HP:0002359)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)
Gene: ARHGEF2
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)
Gene: ARHGEF2
Phenotype: Amblyopia (HP:0000646)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)
Gene: ARHGEF2
Phenotype: Abnormal auditory evoked potentials (HP:0006958)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)
Gene: ARHGEF2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)
Gene: ARHGEF2
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)
Gene: ARHGEF2
Phenotype: Skin rash (HP:0000988)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)
Gene: ARHGEF2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)
Gene: ARHGEF2
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)
Gene: ARHGEF2
Phenotype: Broad finger (HP:0001500)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)
Gene: ARHGEF2
Phenotype: Horizontal pendular nystagmus (HP:0007811)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)
Gene: ARHGEF2
Phenotype: Long philtrum (HP:0000343)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)
Gene: ARHGEF2
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)
Gene: ARHGEF2
Phenotype: Astigmatism (HP:0000483)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)
Gene: ARHGEF2
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)