TaoMedAI/RareMedData huggingface dataset:
Gene: CDC40
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 15 (OMIM:619302)
Gene: CDC40
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 15 (OMIM:619302)
Gene: CDC40
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 15 (OMIM:619302)
Gene: CDC40
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 15 (OMIM:619302)
Gene: CDC40
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 15 (OMIM:619302)
Gene: CDC40
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 15 (OMIM:619302)
Gene: CDC40
Phenotype: Congenital onset (HP:0003577)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 15 (OMIM:619302)
Gene: CDC40
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 15 (OMIM:619302)
Gene: CDC40
Phenotype: Anemia (HP:0001903)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 15 (OMIM:619302)
Gene: CDC40
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 15 (OMIM:619302)
Gene: CDC40
Phenotype: Death in infancy (HP:0001522)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 15 (OMIM:619302)
Gene: CDC40
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 15 (OMIM:619302)
Gene: CDC40
Phenotype: Infantile spasms (HP:0012469)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 15 (OMIM:619302)
Gene: CDC40
Phenotype: Delayed early-childhood social milestone development (HP:0012434)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 15 (OMIM:619302)
Gene: CDC40
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 15 (OMIM:619302)
Gene: ZMYND10
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 22 (OMIM:615444)
Gene: ZMYND10
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 22 (OMIM:615444)
Gene: ZMYND10
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 22 (OMIM:615444)
Gene: ZMYND10
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 22 (OMIM:615444)
Gene: ZMYND10
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Infantile onset (HP:0003593)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 22 (OMIM:615444)
Gene: ZMYND10
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 22 (OMIM:615444)
Gene: ZMYND10
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Respiratory insufficiency due to defective ciliary clearance (HP:0200073)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 22 (OMIM:615444)
Gene: ZMYND10
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 22 (OMIM:615444)
Gene: ZMYND10
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Childhood onset (HP:0011463)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 22 (OMIM:615444)
Gene: ZMYND10
Phenotype: Infertility (HP:0000789)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 22 (OMIM:615444)
Gene: ZMYND10
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Chronic bronchitis (HP:0004469)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 22 (OMIM:615444)
Gene: ZMYND10
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Decreased nasal nitric oxide (HP:0033036)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 22 (OMIM:615444)
Gene: ZMYND10
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Absent inner and outer dynein arms (HP:0012259)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 22 (OMIM:615444)
Gene: ZMYND10
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 22 (OMIM:615444)
Gene: ZMYND10
Phenotype: Immotile cilia (HP:0012263)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 22 (OMIM:615444)
Gene: ZMYND10
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 22 (OMIM:615444)
Gene: ZMYND10
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Rhinitis (HP:0012384)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 22 (OMIM:615444)
Gene: ZMYND10
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 22 (OMIM:615444)
Gene: ZMYND10
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Dextrocardia (HP:0001651)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 22 (OMIM:615444)
Gene: ZMYND10
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 22 (OMIM:615444)
Gene: ZMYND10
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 22 (OMIM:615444)
Gene: ZMYND10
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ZMYND10
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: POMP
Phenotype: Brachydactyly (HP:0001156)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Abnormal circulating IgM concentration (HP:0410243)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Seizure (HP:0001250)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Anti-thyroid peroxidase antibody positivity (HP:0025379)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Linear arrays of macular hyperkeratoses in flexural areas (HP:0007490)
Associated disease: KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA (OMIM:601952)
Gene: POMP
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA (OMIM:601952)
Gene: POMP
Phenotype: Honeycomb palmoplantar hyperkeratosis (HP:0007465)
Associated disease: KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA (OMIM:601952)
Gene: POMP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA (OMIM:601952)
Gene: POMP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Neutrophilic infiltration of the skin (HP:0031234)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Periorbital edema (HP:0100539)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Increased CD4:CD8 ratio (HP:0033221)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Congenital onset (HP:0003577)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA (OMIM:601952)
Gene: POMP
Phenotype: Anti-thyroglobulin antibody positivity (HP:0032069)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Parakeratosis (HP:0001036)
Associated disease: KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA (OMIM:601952)
Gene: POMP
Phenotype: Amniotic constriction ring (HP:0009775)
Associated disease: KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA (OMIM:601952)
Gene: POMP
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Fever (HP:0001945)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Anti-beta-2-Glycoprotein I IgG antibody positivity (HP:0034156)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Increased circulating IgG concentration (HP:0003237)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Skin rash (HP:0000988)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: KLICK syndrome; Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome (ORPHA:281201)
Gene: POMP
Phenotype: Ichthyosis (HP:0008064)
Associated disease: KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA (OMIM:601952)
Gene: POMP
Phenotype: Ichthyosis (HP:0008064)
Associated disease: KLICK syndrome; Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome (ORPHA:281201)
Gene: POMP
Phenotype: Arthralgia (HP:0002829)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Clinodactyly (HP:0030084)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Annular cutaneous lesion (HP:0025528)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Hyperconvex nail (HP:0001795)
Associated disease: KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA (OMIM:601952)
Gene: POMP
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Decreased proportion of memory B cells (HP:0030374)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: POMP
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Gene: TRAPPC4
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY (OMIM:618741)
Gene: TRAPPC4
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY (OMIM:618741)
Gene: TRAPPC4
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY (OMIM:618741)
Gene: TRAPPC4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY (OMIM:618741)
Gene: TRAPPC4
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY (OMIM:618741)
Gene: TRAPPC4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY (OMIM:618741)
Gene: TRAPPC4
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY (OMIM:618741)
Gene: TRAPPC4
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY (OMIM:618741)
Gene: TRAPPC4
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY (OMIM:618741)
Gene: TRAPPC4
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY (OMIM:618741)
Gene: TRAPPC4
Phenotype: Narrow forehead (HP:0000341)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY (OMIM:618741)
Gene: TRAPPC4
Phenotype: Long philtrum (HP:0000343)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY (OMIM:618741)
Gene: TRAPPC4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY (OMIM:618741)
Gene: TRAPPC4
Phenotype: Brain atrophy (HP:0012444)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY (OMIM:618741)
Gene: ACTL6B
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS (OMIM:618470)
Gene: ACTL6B
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS (OMIM:618470)
Gene: ACTL6B
Phenotype: Poor head control (HP:0002421)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ACTL6B
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ACTL6B
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ACTL6B
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76 (OMIM:618468)
Gene: ACTL6B
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ACTL6B
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ACTL6B
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ACTL6B
Phenotype: Seizure (HP:0001250)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ACTL6B
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76 (OMIM:618468)
Gene: ACTL6B
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS (OMIM:618470)
Gene: ACTL6B
Phenotype: Ataxia (HP:0001251)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ACTL6B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ACTL6B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76 (OMIM:618468)
Gene: ACTL6B
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ACTL6B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ACTL6B
Phenotype: Spasticity (HP:0001257)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ACTL6B
Phenotype: Inability to walk (HP:0002540)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76 (OMIM:618468)
Gene: ACTL6B
Phenotype: Inability to walk (HP:0002540)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS (OMIM:618470)
Gene: ACTL6B
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ACTL6B
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ACTL6B
Phenotype: Death in childhood (HP:0003819)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76 (OMIM:618468)
Gene: ACTL6B
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76 (OMIM:618468)
Gene: ACTL6B
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76 (OMIM:618468)
Gene: ACTL6B
Phenotype: Absent speech (HP:0001344)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS (OMIM:618470)
Gene: ACTL6B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76 (OMIM:618468)