TaoMedAI/RareMedData huggingface dataset:
Gene: NDUFAF5
Phenotype: Hypotonia (HP:0001252)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Ataxia (HP:0001251)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (OMIM:618238)
Gene: NDUFAF5
Phenotype: Dysarthria (HP:0001260)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (OMIM:618238)
Gene: NDUFAF5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (OMIM:618238)
Gene: NDUFAF5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Spasticity (HP:0001257)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (OMIM:618238)
Gene: NDUFAF5
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (OMIM:618238)
Gene: NDUFAF5
Phenotype: Dystonia (HP:0001332)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (OMIM:618238)
Gene: NDUFAF5
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (OMIM:618238)
Gene: NDUFAF5
Phenotype: Scoliosis (HP:0002650)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (OMIM:618238)
Gene: NDUFAF5
Phenotype: Proximal tubulopathy (HP:0000114)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Vomiting (HP:0002013)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (OMIM:618238)
Gene: NDUFAF5
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (OMIM:618238)
Gene: NDUFAF5
Phenotype: Abnormal mitochondria in muscle tissue (HP:0008316)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (OMIM:618238)
Gene: NDUFAF5
Phenotype: Caudate atrophy (HP:0002340)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (OMIM:618238)
Gene: NDUFAF5
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Nystagmus (HP:0000639)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Nystagmus (HP:0000639)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (OMIM:618238)
Gene: NDUFAF5
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (OMIM:618238)
Gene: NDUFAF5
Phenotype: Blindness (HP:0000618)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Focal T2 hyperintense brainstem lesion (HP:0012748)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Aplasia of the left hemidiaphragm (HP:0009112)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (OMIM:618238)
Gene: NDUFAF5
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (OMIM:618238)
Gene: NDUFAF5
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (OMIM:618238)
Gene: NDUFAF5
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Paroxysmal involuntary eye movements (HP:0007704)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Microcephaly (HP:0000252)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (OMIM:618238)
Gene: NDUFAF5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (OMIM:618238)
Gene: NDUFAF5
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Strabismus (HP:0000486)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Ptosis (HP:0000508)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF5
Phenotype: Ptosis (HP:0000508)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (OMIM:618238)
Gene: NDUFAF5
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: CCDC28B
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Syndactyly (HP:0001159)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Ataxia (HP:0001251)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Micropenis (HP:0000054)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Specific learning disability (HP:0001328)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Scoliosis (HP:0002650)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Abnormality of the ovary (HP:0000137)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Vaginal atresia (HP:0000148)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: High, narrow palate (HP:0002705)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Asthma (HP:0002099)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Gait imbalance (HP:0002141)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Congenital onset (HP:0003577)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Poor coordination (HP:0002370)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Hirsutism (HP:0001007)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Nephrogenic diabetes insipidus (HP:0009806)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Biliary tract abnormality (HP:0001080)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Dermatochalasis (HP:0010750)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Nystagmus (HP:0000639)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Truncal obesity (HP:0001956)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Dental crowding (HP:0000678)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Nyctalopia (HP:0000662)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Hypodontia (HP:0000668)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Hyperautofluorescent macular lesion (HP:0030631)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Childhood onset (HP:0011463)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Insulin resistance (HP:0000855)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Hypertension (HP:0000822)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Macrocephaly (HP:0000256)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: High palate (HP:0000218)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Obesity (HP:0001513)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Allergy (HP:0012393)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Astigmatism (HP:0000483)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Strabismus (HP:0000486)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Short foot (HP:0001773)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Broad foot (HP:0001769)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Cataract (HP:0000518)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Ptosis (HP:0000508)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Glaucoma (HP:0000501)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: CCDC28B
Phenotype: Myopia (HP:0000545)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: MBOAT7
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 (OMIM:617188)
Gene: MBOAT7
Phenotype: Hypertonia (HP:0001276)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 (OMIM:617188)
Gene: MBOAT7
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 (OMIM:617188)
Gene: MBOAT7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 (OMIM:617188)
Gene: MBOAT7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 (OMIM:617188)
Gene: MBOAT7
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 (OMIM:617188)
Gene: MBOAT7
Phenotype: Inability to walk (HP:0002540)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 (OMIM:617188)
Gene: MBOAT7
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 (OMIM:617188)
Gene: MBOAT7
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 (OMIM:617188)
Gene: MBOAT7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 (OMIM:617188)
Gene: MBOAT7
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 (OMIM:617188)
Gene: MBOAT7
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 (OMIM:617188)
Gene: MBOAT7
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 (OMIM:617188)
Gene: MBOAT7
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 (OMIM:617188)
Gene: MBOAT7
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 (OMIM:617188)
Gene: MBOAT7
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 (OMIM:617188)
Gene: MBOAT7
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 (OMIM:617188)
Gene: MBOAT7
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 (OMIM:617188)
Gene: MBOAT7
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 (OMIM:617188)
Gene: FKRP
Phenotype: Poor speech (HP:0002465)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: FKRP
Phenotype: Limb-girdle muscle atrophy (HP:0003797)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: FKRP
Phenotype: Cerebellar malformation (HP:0002438)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKRP
Phenotype: Meningocele (HP:0002435)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: FKRP
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKRP
Phenotype: Type II lissencephaly (HP:0007260)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: FKRP
Phenotype: Type II lissencephaly (HP:0007260)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 (OMIM:613153)
Gene: FKRP
Phenotype: Type II lissencephaly (HP:0007260)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKRP
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: FKRP
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKRP
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)