TaoMedAI/RareMedData huggingface dataset:
Gene: KCNK9
Phenotype: Fatiguable weakness of proximal limb muscles (HP:0030200)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Dysphonia (HP:0001618)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Fatigable weakness of skeletal muscles (HP:0030197)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Narrow forehead (HP:0000341)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Narrow forehead (HP:0000341)
Associated disease: BIRK-BAREL SYNDROME (OMIM:612292)
Gene: KCNK9
Phenotype: Hypomimic face (HP:0000338)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Micrognathia (HP:0000347)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Short philtrum (HP:0000322)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Short philtrum (HP:0000322)
Associated disease: BIRK-BAREL SYNDROME (OMIM:612292)
Gene: KCNK9
Phenotype: Microretrognathia (HP:0000308)
Associated disease: BIRK-BAREL SYNDROME (OMIM:612292)
Gene: KCNK9
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Protruding ear (HP:0000411)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Long eyelashes (HP:0000527)
Associated disease: BIRK-BAREL SYNDROME (OMIM:612292)
Gene: REEP2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPASTIC PARAPLEGIA 72B, AUTOSOMAL RECESSIVE (OMIM:620606)
Gene: REEP2
Phenotype: Ataxia (HP:0001251)
Associated disease: SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE (OMIM:615625)
Gene: REEP2
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 72B, AUTOSOMAL RECESSIVE (OMIM:620606)
Gene: REEP2
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE (OMIM:615625)
Gene: REEP2
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE (OMIM:615625)
Gene: REEP2
Phenotype: Spasticity (HP:0001257)
Associated disease: SPASTIC PARAPLEGIA 72B, AUTOSOMAL RECESSIVE (OMIM:620606)
Gene: REEP2
Phenotype: Spasticity (HP:0001257)
Associated disease: SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE (OMIM:615625)
Gene: REEP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 72B, AUTOSOMAL RECESSIVE (OMIM:620606)
Gene: REEP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE (OMIM:615625)
Gene: REEP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE (OMIM:615625)
Gene: REEP2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPASTIC PARAPLEGIA 72B, AUTOSOMAL RECESSIVE (OMIM:620606)
Gene: REEP2
Phenotype: Rigidity (HP:0002063)
Associated disease: SPG72; Autosomal spastic paraplegia type 72 (ORPHA:401849)
Gene: REEP2
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 72B, AUTOSOMAL RECESSIVE (OMIM:620606)
Gene: REEP2
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPG72; Autosomal spastic paraplegia type 72 (ORPHA:401849)
Gene: REEP2
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE (OMIM:615625)
Gene: REEP2
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 72B, AUTOSOMAL RECESSIVE (OMIM:620606)
Gene: REEP2
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE (OMIM:615625)
Gene: REEP2
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE (OMIM:615625)
Gene: REEP2
Phenotype: Postural tremor (HP:0002174)
Associated disease: SPG72; Autosomal spastic paraplegia type 72 (ORPHA:401849)
Gene: REEP2
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE (OMIM:615625)
Gene: REEP2
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: SPASTIC PARAPLEGIA 72B, AUTOSOMAL RECESSIVE (OMIM:620606)
Gene: REEP2
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE (OMIM:615625)
Gene: REEP2
Phenotype: Memory impairment (HP:0002354)
Associated disease: SPG72; Autosomal spastic paraplegia type 72 (ORPHA:401849)
Gene: REEP2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE (OMIM:615625)
Gene: REEP2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE (OMIM:615625)
Gene: REEP2
Phenotype: Difficulty running (HP:0009046)
Associated disease: SPASTIC PARAPLEGIA 72B, AUTOSOMAL RECESSIVE (OMIM:620606)
Gene: REEP2
Phenotype: Impaired vibration sensation at ankles (HP:0006938)
Associated disease: SPG72; Autosomal spastic paraplegia type 72 (ORPHA:401849)
Gene: REEP2
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE (OMIM:615625)
Gene: REEP2
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 72B, AUTOSOMAL RECESSIVE (OMIM:620606)
Gene: REEP2
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE (OMIM:615625)
Gene: REEP2
Phenotype: Abnormality of mental function (HP:0011446)
Associated disease: SPG72; Autosomal spastic paraplegia type 72 (ORPHA:401849)
Gene: REEP2
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: SPG72; Autosomal spastic paraplegia type 72 (ORPHA:401849)
Gene: REEP2
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE (OMIM:615625)
Gene: REEP2
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE (OMIM:615625)
Gene: REEP2
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE (OMIM:615625)
Gene: REEP2
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPG72; Autosomal spastic paraplegia type 72 (ORPHA:401849)
Gene: REEP2
Phenotype: Pain (HP:0012531)
Associated disease: SPG72; Autosomal spastic paraplegia type 72 (ORPHA:401849)
Gene: TLR8
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED (OMIM:301078)
Gene: TLR8
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED (OMIM:301078)
Gene: TLR8
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED (OMIM:301078)
Gene: TLR8
Phenotype: Recurrent infections (HP:0002719)
Associated disease: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED (OMIM:301078)
Gene: TLR8
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED (OMIM:301078)
Gene: TLR8
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED (OMIM:301078)
Gene: TLR8
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED (OMIM:301078)
Gene: TLR8
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED (OMIM:301078)
Gene: TLR8
Phenotype: Myelofibrosis (HP:0011974)
Associated disease: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED (OMIM:301078)
Gene: TLR8
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED (OMIM:301078)
Gene: TLR8
Phenotype: Pneumocystis jirovecii pneumonia (HP:0020102)
Associated disease: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED (OMIM:301078)
Gene: TLR8
Phenotype: Juvenile onset (HP:0003621)
Associated disease: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED (OMIM:301078)
Gene: TLR8
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED (OMIM:301078)
Gene: TLR8
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED (OMIM:301078)
Gene: TLR8
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED (OMIM:301078)
Gene: TLR8
Phenotype: Absence of circulating granulocytes (HP:0012234)
Associated disease: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED (OMIM:301078)
Gene: TLR8
Phenotype: Growth delay (HP:0001510)
Associated disease: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED (OMIM:301078)
Gene: TLR8
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED (OMIM:301078)
Gene: TLR8
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED (OMIM:301078)
Gene: TLR8
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED (OMIM:301078)
Gene: TLR8
Phenotype: Early young adult onset (HP:0025708)
Associated disease: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED (OMIM:301078)
Gene: TLR8
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED (OMIM:301078)
Gene: TLR8
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED (OMIM:301078)
Gene: TLR8
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED (OMIM:301078)
Gene: NME8
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 6 (OMIM:610852)
Gene: NME8
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Abnormal respiratory motile cilium morphology (HP:0005938)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 6 (OMIM:610852)
Gene: NME8
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Absent/shortened outer dynein arms (HP:0200109)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 6 (OMIM:610852)
Gene: NME8
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 6 (OMIM:610852)
Gene: NME8
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 6 (OMIM:610852)
Gene: NME8
Phenotype: Abnormal ciliary motility (HP:0012262)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 6 (OMIM:610852)
Gene: NME8
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Sinusitis (HP:0000246)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 6 (OMIM:610852)
Gene: NME8
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 6 (OMIM:610852)
Gene: NME8
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME8
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: PHF21A
Phenotype: Tapered finger (HP:0001182)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES (OMIM:618725)
Gene: PHF21A
Phenotype: Syndactyly (HP:0001159)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES (OMIM:618725)
Gene: PHF21A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES (OMIM:618725)
Gene: PHF21A
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES (OMIM:618725)
Gene: PHF21A
Phenotype: Seizure (HP:0001250)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: PHF21A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES (OMIM:618725)
Gene: PHF21A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: PHF21A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES (OMIM:618725)
Gene: PHF21A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: PHF21A
Phenotype: Micropenis (HP:0000054)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: PHF21A
Phenotype: Parietal foramina (HP:0002697)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: PHF21A
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES (OMIM:618725)
Gene: PHF21A
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: PHF21A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES (OMIM:618725)
Gene: PHF21A
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: PHF21A
Phenotype: Exostoses (HP:0100777)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: PHF21A
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES (OMIM:618725)
Gene: PHF21A
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES (OMIM:618725)
Gene: PHF21A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: PHF21A
Phenotype: Anemia (HP:0001903)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: PHF21A
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES (OMIM:618725)
Gene: PHF21A
Phenotype: Decreased skull ossification (HP:0004331)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: PHF21A
Phenotype: Anxiety (HP:0000739)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES (OMIM:618725)
Gene: PHF21A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES (OMIM:618725)
Gene: PHF21A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES (OMIM:618725)
Gene: PHF21A
Phenotype: Hypertension (HP:0000822)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: PHF21A
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: PHF21A
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: PHF21A
Phenotype: Epicanthus (HP:0000286)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: PHF21A
Phenotype: Macrocephaly (HP:0000256)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES (OMIM:618725)
Gene: PHF21A
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: PHF21A
Phenotype: Obesity (HP:0001513)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES (OMIM:618725)