TaoMedAI/RareMedData huggingface dataset:
Gene: CD96
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Seizure (HP:0001250)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Seizure (HP:0001250)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Hypotonia (HP:0001252)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Hypotonia (HP:0001252)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Global developmental delay (HP:0001263)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Scoliosis (HP:0002650)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Midline facial capillary hemangioma (HP:0007601)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Accessory oral frenulum (HP:0000191)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Accessory oral frenulum (HP:0000191)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Cleft palate (HP:0000175)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Wide mouth (HP:0000154)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Constipation (HP:0002019)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Female pseudohermaphroditism (HP:0010458)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Abnormal hair pattern (HP:0010720)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Hypoplasia of the ear cartilage (HP:0100720)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Short metacarpal (HP:0010049)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Short stature (HP:0004322)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Short stature (HP:0004322)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Renal cortical cysts (HP:0000803)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Abnormality of the anus (HP:0004378)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Thick anterior alveolar ridges (HP:0009100)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Short nose (HP:0003196)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Short nose (HP:0003196)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Cutis laxa (HP:0000973)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Epicanthus (HP:0000286)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Epicanthus (HP:0000286)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Hip dislocation (HP:0002827)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Clinodactyly (HP:0030084)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Microcephaly (HP:0000252)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Microcephaly (HP:0000252)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Redundant skin (HP:0001582)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: High palate (HP:0000218)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: High palate (HP:0000218)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Death in infancy (HP:0001522)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Omphalocele (HP:0001539)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Omphalocele (HP:0001539)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Failure to thrive (HP:0001508)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Low-set ears (HP:0000369)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Long philtrum (HP:0000343)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Micrognathia (HP:0000347)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Micrognathia (HP:0000347)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Micromelia (HP:0002983)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Micromelia (HP:0002983)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Fused sternal ossification centers (HP:0006643)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Strabismus (HP:0000486)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Strabismus (HP:0000486)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Anteverted nares (HP:0000463)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Short neck (HP:0000470)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: C SYNDROME (OMIM:211750)
Gene: CD96
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: CD96
Phenotype: Talipes (HP:0001883)
Associated disease: Opitz trigonocephaly syndrome; Opitz C trigonocephaly; C syndrome; OTCS; Opitz trigonocephaly C syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Gene: COQ7
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 9 (OMIM:620402)
Gene: COQ7
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)
Gene: COQ7
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)
Gene: COQ7
Phenotype: Motor delay (HP:0001270)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)
Gene: COQ7
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 9 (OMIM:620402)
Gene: COQ7
Phenotype: Hypotonia (HP:0001252)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)
Gene: COQ7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)
Gene: COQ7
Phenotype: Flexion contracture (HP:0001371)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)
Gene: COQ7
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 9 (OMIM:620402)
Gene: COQ7
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)
Gene: COQ7
Phenotype: Muscle weakness (HP:0001324)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)
Gene: COQ7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 9 (OMIM:620402)
Gene: COQ7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)
Gene: COQ7
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 9 (OMIM:620402)
Gene: COQ7
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 9 (OMIM:620402)
Gene: COQ7
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 9 (OMIM:620402)
Gene: COQ7
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)
Gene: COQ7
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)
Gene: COQ7
Phenotype: Respiratory distress (HP:0002098)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)
Gene: COQ7
Phenotype: Gowers sign (HP:0003391)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 9 (OMIM:620402)
Gene: COQ7
Phenotype: Abnormal renal corticomedullary differentiation (HP:0005932)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)
Gene: COQ7
Phenotype: Babinski sign (HP:0003487)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 9 (OMIM:620402)
Gene: COQ7
Phenotype: Disturbed sensory perception (HP:0010524)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 9 (OMIM:620402)
Gene: COQ7
Phenotype: Congenital onset (HP:0003577)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)
Gene: COQ7
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 9 (OMIM:620402)
Gene: COQ7
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)
Gene: COQ7
Phenotype: Fasciculations (HP:0002380)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 9 (OMIM:620402)
Gene: COQ7
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 9 (OMIM:620402)
Gene: COQ7
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 9 (OMIM:620402)
Gene: COQ7
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 9 (OMIM:620402)
Gene: COQ7
Phenotype: Dementia (HP:0000726)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 9 (OMIM:620402)
Gene: COQ7
Phenotype: Hypertension (HP:0000822)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)
Gene: COQ7
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)
Gene: COQ7
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)
Gene: COQ7
Phenotype: Small for gestational age (HP:0001518)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)
Gene: COQ7
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)
Gene: COQ7
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)
Gene: COQ7
Phenotype: Hearing impairment (HP:0000365)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)
Gene: COQ7
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)
Gene: COQ7
Phenotype: Pes cavus (HP:0001761)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 9 (OMIM:620402)
Gene: COQ7
Phenotype: Visual impairment (HP:0000505)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)
Gene: COQ7
Phenotype: Pain (HP:0012531)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)
Gene: LRRC23
Phenotype: Bent sperm flagella (HP:0034811)
Associated disease: SPERMATOGENIC FAILURE 92 (OMIM:620848)
Gene: LRRC23
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 92 (OMIM:620848)
Gene: LRRC23
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: SPERMATOGENIC FAILURE 92 (OMIM:620848)
Gene: LRRC23
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE 92 (OMIM:620848)
Gene: LRRC23
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE 92 (OMIM:620848)
Gene: LRRC23
Phenotype: Reduced progressive sperm motility (HP:0034011)
Associated disease: SPERMATOGENIC FAILURE 92 (OMIM:620848)
Gene: LRRC23
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 92 (OMIM:620848)
Gene: LRRC23
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 92 (OMIM:620848)
Gene: LRRC23
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 92 (OMIM:620848)
Gene: LRRC23
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 92 (OMIM:620848)
Gene: RASGRP2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RASGRP2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RASGRP2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RASGRP2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RASGRP2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)