TaoMedAI/RareMedData huggingface dataset:
Gene: RBM28
Phenotype: Carious teeth (HP:0000670)
Associated disease: ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME (OMIM:612079)
Gene: RBM28
Phenotype: Hypodontia (HP:0000668)
Associated disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)
Gene: RBM28
Phenotype: Hypodontia (HP:0000668)
Associated disease: ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME (OMIM:612079)
Gene: RBM28
Phenotype: Short stature (HP:0004322)
Associated disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)
Gene: RBM28
Phenotype: Short stature (HP:0004322)
Associated disease: ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME (OMIM:612079)
Gene: RBM28
Phenotype: Gynecomastia (HP:0000771)
Associated disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)
Gene: RBM28
Phenotype: Gynecomastia (HP:0000771)
Associated disease: ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME (OMIM:612079)
Gene: RBM28
Phenotype: Limb joint contracture (HP:0003121)
Associated disease: ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME (OMIM:612079)
Gene: RBM28
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)
Gene: RBM28
Phenotype: Delayed puberty (HP:0000823)
Associated disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)
Gene: RBM28
Phenotype: Delayed puberty (HP:0000823)
Associated disease: ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME (OMIM:612079)
Gene: RBM28
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME (OMIM:612079)
Gene: RBM28
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME (OMIM:612079)
Gene: RBM28
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)
Gene: RBM28
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)
Gene: RBM28
Phenotype: Alopecia (HP:0001596)
Associated disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)
Gene: RBM28
Phenotype: Alopecia (HP:0001596)
Associated disease: ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME (OMIM:612079)
Gene: RBM28
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)
Gene: RBM28
Phenotype: Microcephaly (HP:0000252)
Associated disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)
Gene: RBM28
Phenotype: Microcephaly (HP:0000252)
Associated disease: ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME (OMIM:612079)
Gene: RBM28
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)
Gene: RBM28
Phenotype: Small pituitary gland (HP:0012506)
Associated disease: ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME (OMIM:612079)
Gene: RBM28
Phenotype: Decreased serum insulin-like growth factor 1 (HP:0030353)
Associated disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)
Gene: WRAP53
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Hepatic failure (HP:0001399)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Cirrhosis (HP:0001394)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Neoplasm (HP:0002664)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 (OMIM:613988)
Gene: WRAP53
Phenotype: Lymphoma (HP:0002665)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Scoliosis (HP:0002650)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 (OMIM:613988)
Gene: WRAP53
Phenotype: Malabsorption (HP:0002024)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Esophageal stenosis (HP:0010450)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 (OMIM:613988)
Gene: WRAP53
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Aplastic/hypoplastic toenail (HP:0010624)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 (OMIM:613988)
Gene: WRAP53
Phenotype: Skin vesicle (HP:0200037)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Coarse metaphyseal trabecularization (HP:0100670)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Displacement of the urethral meatus (HP:0100627)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Skin ulcer (HP:0200042)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 (OMIM:613988)
Gene: WRAP53
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Abnormality of the pharynx (HP:0000600)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Anemia (HP:0001903)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: White hair (HP:0011364)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Taurodontia (HP:0000679)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Carious teeth (HP:0000670)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Hypodontia (HP:0000668)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Short stature (HP:0004322)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Anorectal anomaly (HP:0012732)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Macule (HP:0012733)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Periodontitis (HP:0000704)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Osteoporosis (HP:0000939)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Sparse hair (HP:0008070)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Alopecia (HP:0001596)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Short telomere length (HP:0031413)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 (OMIM:613988)
Gene: WRAP53
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Blepharitis (HP:0000498)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Splenomegaly (HP:0001744)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Squamous cell carcinoma of the tongue (HP:0030413)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 (OMIM:613988)
Gene: WRAP53
Phenotype: Cataract (HP:0000518)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: WRAP53
Phenotype: Pancytopenia (HP:0001876)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 (OMIM:613988)
Gene: THAP1
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Generalized cervical and upper-limb-onset dystonia; DYT6; Primary dystonia, DYT6 type; Idiopathic torsion dystonia of mixed type (ORPHA:98806)
Gene: THAP1
Phenotype: Limb dystonia (HP:0002451)
Associated disease: DYSTONIA 6, TORSION (OMIM:602629)
Gene: THAP1
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: Generalized cervical and upper-limb-onset dystonia; DYT6; Primary dystonia, DYT6 type; Idiopathic torsion dystonia of mixed type (ORPHA:98806)
Gene: THAP1
Phenotype: Dysarthria (HP:0001260)
Associated disease: DYSTONIA 6, TORSION (OMIM:602629)
Gene: THAP1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Generalized cervical and upper-limb-onset dystonia; DYT6; Primary dystonia, DYT6 type; Idiopathic torsion dystonia of mixed type (ORPHA:98806)
Gene: THAP1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: DYSTONIA 6, TORSION (OMIM:602629)
Gene: THAP1
Phenotype: Lingual dystonia (HP:0031008)
Associated disease: Generalized cervical and upper-limb-onset dystonia; DYT6; Primary dystonia, DYT6 type; Idiopathic torsion dystonia of mixed type (ORPHA:98806)
Gene: THAP1
Phenotype: Lingual dystonia (HP:0031008)
Associated disease: DYSTONIA 6, TORSION (OMIM:602629)
Gene: THAP1
Phenotype: Oromandibular dystonia (HP:0012048)
Associated disease: DYSTONIA 6, TORSION (OMIM:602629)
Gene: THAP1
Phenotype: Laryngeal dystonia (HP:0012049)
Associated disease: Generalized cervical and upper-limb-onset dystonia; DYT6; Primary dystonia, DYT6 type; Idiopathic torsion dystonia of mixed type (ORPHA:98806)
Gene: THAP1
Phenotype: Laryngeal dystonia (HP:0012049)
Associated disease: DYSTONIA 6, TORSION (OMIM:602629)
Gene: THAP1
Phenotype: Dystonia (HP:0001332)
Associated disease: Generalized cervical and upper-limb-onset dystonia; DYT6; Primary dystonia, DYT6 type; Idiopathic torsion dystonia of mixed type (ORPHA:98806)
Gene: THAP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DYSTONIA 6, TORSION (OMIM:602629)
Gene: THAP1
Phenotype: Myoclonus (HP:0001336)
Associated disease: DYSTONIA 6, TORSION (OMIM:602629)
Gene: THAP1
Phenotype: Torsion dystonia (HP:0001304)
Associated disease: DYSTONIA 6, TORSION (OMIM:602629)
Gene: THAP1
Phenotype: Craniofacial dystonia (HP:0012179)
Associated disease: Generalized cervical and upper-limb-onset dystonia; DYT6; Primary dystonia, DYT6 type; Idiopathic torsion dystonia of mixed type (ORPHA:98806)
Gene: THAP1
Phenotype: Writer's cramp (HP:0002356)
Associated disease: DYSTONIA 6, TORSION (OMIM:602629)
Gene: THAP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DYSTONIA 6, TORSION (OMIM:602629)
Gene: THAP1
Phenotype: Blepharospasm (HP:0000643)
Associated disease: Generalized cervical and upper-limb-onset dystonia; DYT6; Primary dystonia, DYT6 type; Idiopathic torsion dystonia of mixed type (ORPHA:98806)
Gene: THAP1
Phenotype: Young adult onset (HP:0011462)
Associated disease: DYSTONIA 6, TORSION (OMIM:602629)
Gene: THAP1
Phenotype: Dysphonia (HP:0001618)
Associated disease: DYSTONIA 6, TORSION (OMIM:602629)
Gene: THAP1
Phenotype: Torticollis (HP:0000473)
Associated disease: Generalized cervical and upper-limb-onset dystonia; DYT6; Primary dystonia, DYT6 type; Idiopathic torsion dystonia of mixed type (ORPHA:98806)
Gene: THAP1
Phenotype: Torticollis (HP:0000473)
Associated disease: DYSTONIA 6, TORSION (OMIM:602629)
Gene: UBR7
Phenotype: Seizure (HP:0001250)
Associated disease: LI-CAMPEAU SYNDROME (OMIM:619189)
Gene: UBR7
Phenotype: Hypotonia (HP:0001252)
Associated disease: LI-CAMPEAU SYNDROME (OMIM:619189)
Gene: UBR7
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: LI-CAMPEAU SYNDROME (OMIM:619189)
Gene: UBR7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LI-CAMPEAU SYNDROME (OMIM:619189)
Gene: UBR7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LI-CAMPEAU SYNDROME (OMIM:619189)
Gene: UBR7
Phenotype: Micropenis (HP:0000054)
Associated disease: LI-CAMPEAU SYNDROME (OMIM:619189)
Gene: UBR7
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: LI-CAMPEAU SYNDROME (OMIM:619189)
Gene: UBR7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LI-CAMPEAU SYNDROME (OMIM:619189)
Gene: UBR7
Phenotype: Sudden unexpected death in epilepsy (HP:0033258)
Associated disease: LI-CAMPEAU SYNDROME (OMIM:619189)
Gene: UBR7
Phenotype: Congenital onset (HP:0003577)
Associated disease: LI-CAMPEAU SYNDROME (OMIM:619189)
Gene: UBR7
Phenotype: Short stature (HP:0004322)
Associated disease: LI-CAMPEAU SYNDROME (OMIM:619189)
Gene: UBR7
Phenotype: Patellar hypoplasia (HP:0003065)
Associated disease: LI-CAMPEAU SYNDROME (OMIM:619189)
Gene: UBR7
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: LI-CAMPEAU SYNDROME (OMIM:619189)
Gene: UBR7
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: LI-CAMPEAU SYNDROME (OMIM:619189)
Gene: UBR7
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: LI-CAMPEAU SYNDROME (OMIM:619189)
Gene: UBR7
Phenotype: Low-set ears (HP:0000369)
Associated disease: LI-CAMPEAU SYNDROME (OMIM:619189)
Gene: UBR7
Phenotype: Long philtrum (HP:0000343)
Associated disease: LI-CAMPEAU SYNDROME (OMIM:619189)
Gene: UBR7
Phenotype: Hypertelorism (HP:0000316)
Associated disease: LI-CAMPEAU SYNDROME (OMIM:619189)
Gene: UBR7
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LI-CAMPEAU SYNDROME (OMIM:619189)
Gene: UBR7
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: LI-CAMPEAU SYNDROME (OMIM:619189)
Gene: UBR7
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LI-CAMPEAU SYNDROME (OMIM:619189)
Gene: UBR7
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: LI-CAMPEAU SYNDROME (OMIM:619189)
Gene: UBR7
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: LI-CAMPEAU SYNDROME (OMIM:619189)
Gene: UBR7
Phenotype: Telecanthus (HP:0000506)
Associated disease: LI-CAMPEAU SYNDROME (OMIM:619189)
Gene: UBR7
Phenotype: Ptosis (HP:0000508)
Associated disease: LI-CAMPEAU SYNDROME (OMIM:619189)
Gene: UBR7
Phenotype: Prominent forehead (HP:0011220)
Associated disease: LI-CAMPEAU SYNDROME (OMIM:619189)
Gene: UBR7
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: LI-CAMPEAU SYNDROME (OMIM:619189)
Gene: MTPAP
Phenotype: Spastic ataxia (HP:0002497)
Associated disease: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE (OMIM:613672)
Gene: MTPAP
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: Autosomal recessive spastic ataxia type 4; Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome; SPAX4 (ORPHA:254343)
Gene: MTPAP
Phenotype: Motor delay (HP:0001270)
Associated disease: Autosomal recessive spastic ataxia type 4; Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome; SPAX4 (ORPHA:254343)
Gene: MTPAP
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Autosomal recessive spastic ataxia type 4; Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome; SPAX4 (ORPHA:254343)
Gene: MTPAP
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal recessive spastic ataxia type 4; Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome; SPAX4 (ORPHA:254343)
Gene: MTPAP
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE (OMIM:613672)
Gene: MTPAP
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Autosomal recessive spastic ataxia type 4; Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome; SPAX4 (ORPHA:254343)
Gene: MTPAP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE (OMIM:613672)
Gene: MTPAP
Phenotype: Myoclonus (HP:0001336)
Associated disease: Autosomal recessive spastic ataxia type 4; Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome; SPAX4 (ORPHA:254343)
Gene: MTPAP
Phenotype: Movement abnormality of the tongue (HP:0000182)
Associated disease: Autosomal recessive spastic ataxia type 4; Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome; SPAX4 (ORPHA:254343)
Gene: MTPAP
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE (OMIM:613672)
Gene: MTPAP
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Autosomal recessive spastic ataxia type 4; Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome; SPAX4 (ORPHA:254343)
Gene: MTPAP
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE (OMIM:613672)
Gene: MTPAP
Phenotype: Babinski sign (HP:0003487)
Associated disease: Autosomal recessive spastic ataxia type 4; Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome; SPAX4 (ORPHA:254343)
Gene: MTPAP
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE (OMIM:613672)
Gene: MTPAP
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE (OMIM:613672)
Gene: MTPAP
Phenotype: Hyperactive patellar reflex (HP:0007083)
Associated disease: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE (OMIM:613672)
Gene: MTPAP
Phenotype: Frequent falls (HP:0002359)
Associated disease: Autosomal recessive spastic ataxia type 4; Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome; SPAX4 (ORPHA:254343)
Gene: MTPAP
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE (OMIM:613672)
Gene: MTPAP
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE (OMIM:613672)
Gene: MTPAP
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Autosomal recessive spastic ataxia type 4; Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome; SPAX4 (ORPHA:254343)
Gene: MTPAP
Phenotype: Upper limb hypertonia (HP:0200049)
Associated disease: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE (OMIM:613672)