TaoMedAI/RareMedData huggingface dataset:
Gene: SEMA3E
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Dysphagia (HP:0002015)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Bifid femur (HP:0010443)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Polydactyly (HP:0010442)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SEMA3E
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SEMA3E
Phenotype: Abnormal soft palate morphology (HP:0100736)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Hypoplasia of the zygomatic bone (HP:0010669)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Facial palsy (HP:0010628)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Dimple chin (HP:0010751)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SEMA3E
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Nystagmus (HP:0000639)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Lacrimation abnormality (HP:0000632)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Iris coloboma (HP:0000612)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Eyelid coloboma (HP:0000625)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Hypoplasia of the semicircular canal (HP:0011382)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Short stature (HP:0004322)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Abnormality of bone mineral density (HP:0004348)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Gynecomastia (HP:0000771)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SEMA3E
Phenotype: Autism (HP:0000717)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Infertility (HP:0000789)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SEMA3E
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SEMA3E
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SEMA3E
Phenotype: Abnormality of the adrenal glands (HP:0000834)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Interrupted aortic arch (HP:0011611)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Epicanthus (HP:0000286)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Narrow face (HP:0000275)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Aortic arch aneurysm (HP:0005113)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Microcephaly (HP:0000252)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Omphalocele (HP:0001539)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Overfolded helix (HP:0000396)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Abnormality of the inner ear (HP:0000359)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Abnormal tibia morphology (HP:0002992)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Strabismus (HP:0000486)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Anosmia (HP:0000458)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Webbed neck (HP:0000465)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Choanal atresia (HP:0000453)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Anophthalmia (HP:0000528)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Ptosis (HP:0000508)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Coloboma (HP:0000589)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Microphthalmia (HP:0000568)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Talipes (HP:0001883)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: TMEM63A
Phenotype: Poor head control (HP:0002421)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE (OMIM:618688)
Gene: TMEM63A
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE (OMIM:618688)
Gene: TMEM63A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE (OMIM:618688)
Gene: TMEM63A
Phenotype: Head titubation (HP:0002599)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE (OMIM:618688)
Gene: TMEM63A
Phenotype: Ataxia (HP:0001251)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE (OMIM:618688)
Gene: TMEM63A
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE (OMIM:618688)
Gene: TMEM63A
Phenotype: Hypospadias (HP:0000047)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE (OMIM:618688)
Gene: TMEM63A
Phenotype: Specific learning disability (HP:0001328)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE (OMIM:618688)
Gene: TMEM63A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE (OMIM:618688)
Gene: TMEM63A
Phenotype: Dysmetria (HP:0001310)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE (OMIM:618688)
Gene: TMEM63A
Phenotype: Intention tremor (HP:0002080)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE (OMIM:618688)
Gene: TMEM63A
Phenotype: Babinski sign (HP:0003487)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE (OMIM:618688)
Gene: TMEM63A
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE (OMIM:618688)
Gene: TMEM63A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE (OMIM:618688)
Gene: TMEM63A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE (OMIM:618688)
Gene: TMEM63A
Phenotype: Myopia (HP:0000545)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE (OMIM:618688)
Gene: CEP104
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CEP104
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: JOUBERT SYNDROME 25 (OMIM:616781)
Gene: CEP104
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: JOUBERT SYNDROME 25 (OMIM:616781)
Gene: CEP104
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CEP104
Phenotype: Seizure (HP:0001250)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CEP104
Phenotype: Hypotonia (HP:0001252)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CEP104
Phenotype: Ataxia (HP:0001251)
Associated disease: JOUBERT SYNDROME 25 (OMIM:616781)
Gene: CEP104
Phenotype: Ataxia (HP:0001251)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CEP104
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 77 (OMIM:619988)
Gene: CEP104
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CEP104
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 77 (OMIM:619988)
Gene: CEP104
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JOUBERT SYNDROME 25 (OMIM:616781)
Gene: CEP104
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)