TaoMedAI/RareMedData huggingface dataset:
Gene: SUFU
Phenotype: Nystagmus (HP:0000639)
Associated disease: JOUBERT SYNDROME 32 (OMIM:617757)
Gene: SUFU
Phenotype: Blindness (HP:0000618)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Iris coloboma (HP:0000612)
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: SUFU
Phenotype: Iris coloboma (HP:0000612)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Focal T2 hypointense thalamic lesion (HP:0012691)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Abnormal brain FDG positron emission tomography (HP:0012658)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Oculomotor apraxia (HP:0000657)
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: SUFU
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: JOUBERT SYNDROME 32 (OMIM:617757)
Gene: SUFU
Phenotype: Carious teeth (HP:0000670)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Short stature (HP:0004322)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
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: SUFU
Phenotype: Impotence (HP:0000802)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Spinal meningioma (HP:0100010)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Intracranial meningioma (HP:0100009)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Emotional lability (HP:0000712)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Abnormal kinetic perimetry test (HP:0030591)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Young adult onset (HP:0011462)
Associated disease: BASAL CELL NEVUS SYNDROME 2 (OMIM:620343)
Gene: SUFU
Phenotype: Abnormal central motor function (HP:0011442)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Biparietal narrowing (HP:0004422)
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: SUFU
Phenotype: Ear pain (HP:0030766)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Short nose (HP:0003196)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Anterior rib cupping (HP:0000907)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Rib fusion (HP:0000902)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Bifid ribs (HP:0000892)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
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: SUFU
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Abnormal mediastinum morphology (HP:0045026)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Weak extraocular muscles (HP:0007715)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Epicanthus (HP:0000286)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Coarse facial features (HP:0000280)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Oculomotor nerve palsy (HP:0012246)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Macrocephaly (HP:0000256)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Macrocephaly (HP:0000256)
Associated disease: BASAL CELL NEVUS SYNDROME 2 (OMIM:620343)
Gene: SUFU
Phenotype: Macrocephaly (HP:0000256)
Associated disease: JOUBERT SYNDROME 32 (OMIM:617757)
Gene: SUFU
Phenotype: Long face (HP:0000276)
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: SUFU
Phenotype: Hydrocephalus (HP:0000238)
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: SUFU
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: BASAL CELL NEVUS SYNDROME 2 (OMIM:620343)
Gene: SUFU
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Microcephaly (HP:0000252)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Brachycephaly (HP:0000248)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Episodic tachypnea (HP:0002876)
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: SUFU
Phenotype: Medulloblastoma (HP:0002885)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Medulloblastoma (HP:0002885)
Associated disease: MEDULLOBLASTOMA (OMIM:155255)
Gene: SUFU
Phenotype: Medulloblastoma (HP:0002885)
Associated disease: BASAL CELL NEVUS SYNDROME 2 (OMIM:620343)
Gene: SUFU
Phenotype: Meningioma (HP:0002858)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Meningioma (HP:0002858)
Associated disease: BASAL CELL NEVUS SYNDROME 2 (OMIM:620343)
Gene: SUFU
Phenotype: Meningioma (HP:0002858)
Associated disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:607174)
Gene: SUFU
Phenotype: Orofacial cleft (HP:0000202)
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: SUFU
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Large for gestational age (HP:0001520)
Associated disease: JOUBERT SYNDROME 32 (OMIM:617757)
Gene: SUFU
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Obesity (HP:0001513)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Progressive pulmonary function impairment (HP:0006520)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Situs inversus totalis (HP:0001696)
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: SUFU
Phenotype: Tinnitus (HP:0000360)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Low-set ears (HP:0000369)
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: SUFU
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Hypertelorism (HP:0000316)
Associated disease: JOUBERT SYNDROME 32 (OMIM:617757)
Gene: SUFU
Phenotype: Short philtrum (HP:0000322)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Premature birth (HP:0001622)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: JOUBERT SYNDROME 32 (OMIM:617757)
Gene: SUFU
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Slow decrease in visual acuity (HP:0007924)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: JOUBERT SYNDROME 32 (OMIM:617757)
Gene: SUFU
Phenotype: Strabismus (HP:0000486)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Strabismus (HP:0000486)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Strabismus (HP:0000486)
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: SUFU
Phenotype: Increased sensitivity to ionizing radiation (HP:0011133)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Anteverted nares (HP:0000463)
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: SUFU
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Prominent nasal bridge (HP:0000426)
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: SUFU
Phenotype: Bridged sella turcica (HP:0005449)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Calcification of falx cerebri (HP:0005462)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Calcification of falx cerebri (HP:0005462)
Associated disease: BASAL CELL NEVUS SYNDROME 2 (OMIM:620343)
Gene: SUFU
Phenotype: Enlarged pituitary gland (HP:0012505)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Cataract (HP:0000518)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Proptosis (HP:0000520)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Foot polydactyly (HP:0001829)
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: SUFU
Phenotype: Telecanthus (HP:0000506)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Ptosis (HP:0000508)
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: SUFU
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: JOUBERT SYNDROME 32 (OMIM:617757)
Gene: SUFU
Phenotype: Glaucoma (HP:0000501)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Decreased circulating luteinizing hormone level (HP:0030344)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Decreased circulating follicle stimulating hormone concentration (HP:0030341)
Associated disease: Meningioma (ORPHA:2495)
Gene: CPSF3
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: CPSF3
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: CPSF3
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: CPSF3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: CPSF3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: CPSF3
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: CPSF3
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: CPSF3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: CPSF3
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: CPSF3
Phenotype: Macroglossia (HP:0000158)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: CPSF3
Phenotype: Recurrent infections (HP:0002719)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: CPSF3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: CPSF3
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: CPSF3
Phenotype: Cerebral edema (HP:0002181)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: CPSF3
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: CPSF3
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: CPSF3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: CPSF3
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: CPSF3
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: CPSF3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: CPSF3
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: CPSF3
Phenotype: Fetal onset (HP:0011461)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: CPSF3
Phenotype: Long face (HP:0000276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: CPSF3
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: CPSF3
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: CPSF3
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: CPSF3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: CPSF3
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: CPSF3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Gene: TRAPPC2L
Phenotype: Tetraplegia (HP:0002445)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS (OMIM:618331)
Gene: TRAPPC2L
Phenotype: Seizure (HP:0001250)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS (OMIM:618331)
Gene: TRAPPC2L
Phenotype: Inability to walk (HP:0002540)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS (OMIM:618331)
Gene: TRAPPC2L
Phenotype: Absent speech (HP:0001344)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS (OMIM:618331)
Gene: TRAPPC2L
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS (OMIM:618331)
Gene: TRAPPC2L
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS (OMIM:618331)
Gene: TRAPPC2L
Phenotype: Status epilepticus (HP:0002133)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS (OMIM:618331)
Gene: TRAPPC2L
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS (OMIM:618331)