TaoMedAI/RareMedData huggingface dataset:
Gene: APTX
Phenotype: Ataxia (HP:0001251)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Ataxia (HP:0001251)
Associated disease: AOA1; Ataxia-oculomotor apraxia type 1 (ORPHA:1168)
Gene: APTX
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Dysarthria (HP:0001260)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Dysarthria (HP:0001260)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Glomerular sclerosis (HP:0000096)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Proteinuria (HP:0000093)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Hepatic failure (HP:0001399)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Dystonia (HP:0001332)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Specific learning disability (HP:0001328)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Muscle weakness (HP:0001324)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Tremor (HP:0001337)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Tremor (HP:0001337)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Myoclonus (HP:0001336)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Scoliosis (HP:0002650)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Dysphagia (HP:0002015)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Gait ataxia (HP:0002066)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Chorea (HP:0002072)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Limb ataxia (HP:0002070)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Decreased number of large peripheral myelinated nerve fibers (HP:0003387)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Right hemiplegia (HP:0040293)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Status epilepticus (HP:0002133)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Scanning speech (HP:0002168)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Postural instability (HP:0002172)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Infantile onset (HP:0003593)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Adult onset (HP:0003581)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Recurrent myoglobinuria (HP:0003652)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: AOA1; Ataxia-oculomotor apraxia type 1 (ORPHA:1168)
Gene: APTX
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: AOA1; Ataxia-oculomotor apraxia type 1 (ORPHA:1168)
Gene: APTX
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Nystagmus (HP:0000639)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Anemia (HP:0001903)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Peripheral axonal degeneration (HP:0000764)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Dementia (HP:0000726)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: AOA1; Ataxia-oculomotor apraxia type 1 (ORPHA:1168)
Gene: APTX
Phenotype: Childhood onset (HP:0011463)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Axonal degeneration (HP:0040078)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Impaired executive functioning (HP:0033051)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Decreased level of coenzyme Q10 in skeletal muscle (HP:0034369)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Fatigue (HP:0012378)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Pes cavus (HP:0001761)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Visual loss (HP:0000572)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Hypometric saccades (HP:0000571)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Pancytopenia (HP:0001876)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: ESRP1
Phenotype: Absent vestibular function (HP:0008555)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 109 (OMIM:618013)
Gene: ESRP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 109 (OMIM:618013)
Gene: ESRP1
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 109 (OMIM:618013)
Gene: ESRP1
Phenotype: Abnormal semicircular canal morphology (HP:0011380)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 109 (OMIM:618013)
Gene: ARHGEF38
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGEF38
Phenotype: Cleft palate (HP:0000175)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGEF38
Phenotype: Peg-shaped maxillary lateral incisors (HP:0006342)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGEF38
Phenotype: Abnormality of dental eruption (HP:0006292)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGEF38
Phenotype: Poor suck (HP:0002033)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGEF38
Phenotype: Agenesis of lateral incisor (HP:0200153)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGEF38
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGEF38
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGEF38
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGEF38
Phenotype: Malnutrition (HP:0004395)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGEF38
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGEF38
Phenotype: Bilateral cleft palate (HP:0100337)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGEF38
Phenotype: Unilateral cleft palate (HP:0100334)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGEF38
Phenotype: Palate fistula (HP:0010294)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGEF38
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGEF38
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGEF38
Phenotype: Abnormal number of permanent teeth (HP:0011044)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGEF38
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGEF38
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGEF38
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGEF38
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: CC2D1A
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 (OMIM:608443)
Gene: CC2D1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 (OMIM:608443)
Gene: CC2D1A
Phenotype: Incomprehensible speech (HP:0002546)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 (OMIM:608443)
Gene: CC2D1A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 (OMIM:608443)
Gene: CC2D1A
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 (OMIM:608443)
Gene: CC2D1A
Phenotype: Short attention span (HP:0000736)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 (OMIM:608443)
Gene: CC2D1A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 (OMIM:608443)
Gene: CC2D1A
Phenotype: Childhood onset (HP:0011463)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 (OMIM:608443)
Gene: CC2D1A
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 (OMIM:608443)
Gene: CC2D1A
Phenotype: Hypomimic face (HP:0000338)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 (OMIM:608443)
Gene: QRICH1
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Motor delay (HP:0001270)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Hypotonia (HP:0001252)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Scoliosis (HP:0002650)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Wide mouth (HP:0000154)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Intention tremor (HP:0002080)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Congenital onset (HP:0003577)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Short stature (HP:0004322)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Microcephaly (HP:0000252)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: High palate (HP:0000218)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Cupped ear (HP:0000378)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Low-set ears (HP:0000369)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Macrotia (HP:0000400)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Prominent nose (HP:0000448)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Wide nose (HP:0000445)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Ptosis (HP:0000508)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: QRICH1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Gene: PIGG
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Split hand (HP:0001171)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Hyperextensibility of the finger joints (HP:0001187)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Severe demyelination of the white matter (HP:0007258)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: High anterior hairline (HP:0009890)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Microtia (HP:0008551)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 (OMIM:616917)
Gene: PIGG
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 (OMIM:616917)
Gene: PIGG
Phenotype: Seizure (HP:0001250)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Seizure (HP:0001250)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Hypotonia (HP:0001252)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Hypotonia (HP:0001252)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Ataxia (HP:0001251)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 (OMIM:616917)
Gene: PIGG
Phenotype: Ataxia (HP:0001251)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 (OMIM:616917)
Gene: PIGG
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 (OMIM:616917)