TaoMedAI/RareMedData huggingface dataset:
Gene: PNPO
Phenotype: Rotary nystagmus (HP:0001583)
Associated disease: PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY (OMIM:610090)
Gene: PNPO
Phenotype: Microcephaly (HP:0000252)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: PNPO
Phenotype: Abnormality of the amniotic fluid (HP:0001560)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: PNPO
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: PNPO
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY (OMIM:610090)
Gene: PNPO
Phenotype: Premature birth (HP:0001622)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: PNPO
Phenotype: Premature birth (HP:0001622)
Associated disease: PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY (OMIM:610090)
Gene: PNPO
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-phosphate oxidase deficiency; Pyridoxamine 5'-oxidase deficiency; Pyridoxal phosphate-responsive seizures; PNPO deficiency (ORPHA:79096)
Gene: SHQ1
Phenotype: EEG with photoparoxysmal response (HP:0010852)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES (OMIM:619922)
Gene: SHQ1
Phenotype: Hypertonia (HP:0001276)
Associated disease: EOTD; Early-onset isolated dystonia; Oppenheim dystonia; Early-onset generalized limb-onset dystonia; Early-onset primary dystonia; Early-onset torsion dystonia; Early-onset generalized torsion dystonia; Dystonia musculorum deformans; Idiopathic torsion dystonia (ORPHA:256)
Gene: SHQ1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES (OMIM:619922)
Gene: SHQ1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: EOTD; Early-onset isolated dystonia; Oppenheim dystonia; Early-onset generalized limb-onset dystonia; Early-onset primary dystonia; Early-onset torsion dystonia; Early-onset generalized torsion dystonia; Dystonia musculorum deformans; Idiopathic torsion dystonia (ORPHA:256)
Gene: SHQ1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES (OMIM:619922)
Gene: SHQ1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES (OMIM:619922)
Gene: SHQ1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DYSTONIA 35, CHILDHOOD-ONSET (OMIM:619921)
Gene: SHQ1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DYSTONIA 35, CHILDHOOD-ONSET (OMIM:619921)
Gene: SHQ1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES (OMIM:619922)
Gene: SHQ1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES (OMIM:619922)
Gene: SHQ1
Phenotype: Dystonia (HP:0001332)
Associated disease: DYSTONIA 35, CHILDHOOD-ONSET (OMIM:619921)
Gene: SHQ1
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES (OMIM:619922)
Gene: SHQ1
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES (OMIM:619922)
Gene: SHQ1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DYSTONIA 35, CHILDHOOD-ONSET (OMIM:619921)
Gene: SHQ1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES (OMIM:619922)
Gene: SHQ1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES (OMIM:619922)
Gene: SHQ1
Phenotype: Constipation (HP:0002019)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES (OMIM:619922)
Gene: SHQ1
Phenotype: Temperature instability (HP:0005968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES (OMIM:619922)
Gene: SHQ1
Phenotype: Chorea (HP:0002072)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES (OMIM:619922)
Gene: SHQ1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES (OMIM:619922)
Gene: SHQ1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES (OMIM:619922)
Gene: SHQ1
Phenotype: Sudden unexpected death in epilepsy (HP:0033258)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES (OMIM:619922)
Gene: SHQ1
Phenotype: Infantile onset (HP:0003593)
Associated disease: DYSTONIA 35, CHILDHOOD-ONSET (OMIM:619921)
Gene: SHQ1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES (OMIM:619922)
Gene: SHQ1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES (OMIM:619922)
Gene: SHQ1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES (OMIM:619922)
Gene: SHQ1
Phenotype: Athetosis (HP:0002305)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES (OMIM:619922)
Gene: SHQ1
Phenotype: Third trimester onset (HP:0034197)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES (OMIM:619922)
Gene: SHQ1
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: EOTD; Early-onset isolated dystonia; Oppenheim dystonia; Early-onset generalized limb-onset dystonia; Early-onset primary dystonia; Early-onset torsion dystonia; Early-onset generalized torsion dystonia; Dystonia musculorum deformans; Idiopathic torsion dystonia (ORPHA:256)
Gene: SHQ1
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: EOTD; Early-onset isolated dystonia; Oppenheim dystonia; Early-onset generalized limb-onset dystonia; Early-onset primary dystonia; Early-onset torsion dystonia; Early-onset generalized torsion dystonia; Dystonia musculorum deformans; Idiopathic torsion dystonia (ORPHA:256)
Gene: SHQ1
Phenotype: Anxiety (HP:0000739)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES (OMIM:619922)
Gene: SHQ1
Phenotype: Fetal onset (HP:0011461)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES (OMIM:619922)
Gene: SHQ1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES (OMIM:619922)
Gene: SHQ1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES (OMIM:619922)
Gene: SHQ1
Phenotype: Vegetative state (HP:0031358)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES (OMIM:619922)
Gene: SHQ1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES (OMIM:619922)
Gene: SHQ1
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: EOTD; Early-onset isolated dystonia; Oppenheim dystonia; Early-onset generalized limb-onset dystonia; Early-onset primary dystonia; Early-onset torsion dystonia; Early-onset generalized torsion dystonia; Dystonia musculorum deformans; Idiopathic torsion dystonia (ORPHA:256)
Gene: CEP55
Phenotype: Brachydactyly (HP:0001156)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Stillbirth (HP:0003826)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Neonatal death (HP:0003811)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Renal cyst (HP:0000107)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Potter facies (HP:0002009)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Hydranencephaly (HP:0002324)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Multinucleated neuron (HP:4000150)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Low-set ears (HP:0000369)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Ureteral agenesis (HP:0012300)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Microretrognathia (HP:0000308)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Short neck (HP:0000470)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Bulbous nose (HP:0000414)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: CEP55
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Gene: DNAAF2
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 10 (OMIM:612518)
Gene: DNAAF2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Abnormal respiratory motile cilium morphology (HP:0005938)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 10 (OMIM:612518)
Gene: DNAAF2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 10 (OMIM:612518)
Gene: DNAAF2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 10 (OMIM:612518)
Gene: DNAAF2
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 10 (OMIM:612518)
Gene: DNAAF2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 10 (OMIM:612518)
Gene: DNAAF2
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 10 (OMIM:612518)
Gene: DNAAF2
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: LINS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 (OMIM:614340)
Gene: LINS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 (OMIM:614340)
Gene: LINS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 (OMIM:614340)
Gene: LINS1
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 (OMIM:614340)
Gene: LINS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 (OMIM:614340)
Gene: LINS1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 (OMIM:614340)
Gene: LINS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 (OMIM:614340)
Gene: LINS1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 (OMIM:614340)
Gene: LINS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 (OMIM:614340)
Gene: LINS1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 (OMIM:614340)
Gene: LINS1
Phenotype: Growth delay (HP:0001510)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 (OMIM:614340)
Gene: LINS1
Phenotype: Persistent head lag (HP:0032988)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 (OMIM:614340)
Gene: LINS1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 (OMIM:614340)
Gene: SMG8
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SMG8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Hypospadias (HP:0000047)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SMG8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SMG8
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SMG8
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SMG8
Phenotype: Coronary sinus enlargement (HP:0031298)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Frontal bossing (HP:0002007)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Narrow philtrum (HP:0011829)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Pulmonary artery sling (HP:0004961)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SMG8
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)