TaoMedAI/RareMedData huggingface dataset:
Gene: CREB3L1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVI (OMIM:616229)
Gene: CREB3L1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVI (OMIM:616229)
Gene: CREB3L1
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Osteopenia (HP:0000938)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Absent anterior chamber of the eye (HP:0008037)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Malar flattening (HP:0000272)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Microcephaly (HP:0000252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVI (OMIM:616229)
Gene: CREB3L1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Flat face (HP:0012368)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Congenital blindness (HP:0007875)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Retinal calcification (HP:0007862)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVI (OMIM:616229)
Gene: CREB3L1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVI (OMIM:616229)
Gene: CREB3L1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVI (OMIM:616229)
Gene: CREB3L1
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Microretrognathia (HP:0000308)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVI (OMIM:616229)
Gene: CREB3L1
Phenotype: Pointed chin (HP:0000307)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Multiple rib fractures (HP:0006640)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVI (OMIM:616229)
Gene: CREB3L1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVI (OMIM:616229)
Gene: CREB3L1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Decreased calvarial ossification (HP:0005474)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVI (OMIM:616229)
Gene: CREB3L1
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XVI (OMIM:616229)
Gene: CREB3L1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CREB3L1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREB3L1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREB3L1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CREB3L1
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DPP9
Phenotype: Honeycomb lung (HP:0025175)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DPP9
Phenotype: Ground-glass opacification (HP:0025179)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DPP9
Phenotype: Hyperpigmented/hypopigmented macules (HP:0007441)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DPP9
Phenotype: Hypospadias (HP:0000047)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Slurred speech (HP:0001350)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Reticular pattern on pulmonary HRCT (HP:0025390)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DPP9
Phenotype: Specific learning disability (HP:0001328)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Recurrent infections (HP:0002719)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DPP9
Phenotype: Asthma (HP:0002099)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Pulmonic regurgitation (HP:0010444)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DPP9
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DPP9
Phenotype: Infantile onset (HP:0003593)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DPP9
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DPP9
Phenotype: Fair hair (HP:0002286)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DPP9
Phenotype: Orthodeoxia (HP:0033367)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DPP9
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Proportionate short stature (HP:0003508)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Poor wound healing (HP:0001058)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DPP9
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Thickened skin (HP:0001072)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Recurrent fever (HP:0001954)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Anemia (HP:0001903)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Usual interstitial pneumonia (HP:0031950)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DPP9
Phenotype: Cough (HP:0012735)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DPP9
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Autistic behavior (HP:0000729)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DPP9
Phenotype: Crackles (HP:0030830)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DPP9
Phenotype: Dry skin (HP:0000958)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Anhidrosis (HP:0000970)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Petechiae (HP:0000967)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DPP9
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Allergy (HP:0012393)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Fatigue (HP:0012378)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DPP9
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DPP9
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Broad forehead (HP:0000337)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Subpleural honeycombing (HP:0031631)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: DPP9
Phenotype: Recurrent herpes (HP:0005353)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: DPP9
Phenotype: Pancytopenia (HP:0001876)
Associated disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Gene: CCDC34
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: CCDC34
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: CCDC34
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: CCDC34
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 76 (OMIM:620084)
Gene: CCDC34
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: CCDC34
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: SPERMATOGENIC FAILURE 76 (OMIM:620084)
Gene: CCDC34
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE 76 (OMIM:620084)
Gene: CCDC34
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: CCDC34
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: CCDC34
Phenotype: Irregularly shaped sperm tail (HP:0033393)
Associated disease: SPERMATOGENIC FAILURE 76 (OMIM:620084)
Gene: CCDC34
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 76 (OMIM:620084)
Gene: CCDC34
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 76 (OMIM:620084)
Gene: CCDC34
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: CCDC34
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 76 (OMIM:620084)
Gene: CCDC34
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 76 (OMIM:620084)
Gene: SLC25A46
Phenotype: Tapered finger (HP:0001182)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC25A46
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1E (OMIM:619303)
Gene: SLC25A46
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Hypertonia (HP:0001276)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1E (OMIM:619303)
Gene: SLC25A46
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Motor delay (HP:0001270)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: SLC25A46
Phenotype: Areflexia (HP:0001284)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1E (OMIM:619303)
Gene: SLC25A46
Phenotype: Areflexia (HP:0001284)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Seizure (HP:0001250)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: SLC25A46
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Hypotonia (HP:0001252)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: SLC25A46
Phenotype: Ataxia (HP:0001251)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Ataxia (HP:0001251)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: SLC25A46
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: SLC25A46
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: SLC25A46
Phenotype: Spasticity (HP:0001257)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: SLC25A46
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: SLC25A46
Phenotype: Variable expressivity (HP:0003828)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Flexion contracture (HP:0001371)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: SLC25A46
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: SLC25A46
Phenotype: Muscle weakness (HP:0001324)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: SLC25A46
Phenotype: Muscle weakness (HP:0001324)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC25A46
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1E (OMIM:619303)
Gene: SLC25A46
Phenotype: Tremor (HP:0001337)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC25A46
Phenotype: Myoclonus (HP:0001336)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1E (OMIM:619303)
Gene: SLC25A46
Phenotype: Myoclonus (HP:0001336)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Dysmetria (HP:0001310)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: SLC25A46
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1E (OMIM:619303)
Gene: SLC25A46
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1E (OMIM:619303)
Gene: SLC25A46
Phenotype: Narrow palate (HP:0000189)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Gene: SLC25A46
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC25A46
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC25A46
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)