TaoMedAI/RareMedData huggingface dataset:
Gene: TINF2
Phenotype: Sparse hair (HP:0008070)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Sparse hair (HP:0008070)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Sparse hair (HP:0008070)
Associated disease: Revesz-DeBuse syndrome; Retinopathy-anemia-central nervous system anomalies syndrome; Dyskeratosis congenita with bilateral exudative retinopathy; Revesz syndrome (ORPHA:3088)
Gene: TINF2
Phenotype: Sparse hair (HP:0008070)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Alopecia (HP:0001596)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Alopecia (HP:0001596)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Alopecia (HP:0001596)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Short telomere length (HP:0031413)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Short telomere length (HP:0031413)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Urethral stricture (HP:0012227)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TINF2
Phenotype: Microcephaly (HP:0000252)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Revesz-DeBuse syndrome; Retinopathy-anemia-central nervous system anomalies syndrome; Dyskeratosis congenita with bilateral exudative retinopathy; Revesz syndrome (ORPHA:3088)
Gene: TINF2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Revesz-DeBuse syndrome; Retinopathy-anemia-central nervous system anomalies syndrome; Dyskeratosis congenita with bilateral exudative retinopathy; Revesz syndrome (ORPHA:3088)
Gene: TINF2
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TINF2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TINF2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Growth delay (HP:0001510)
Associated disease: Revesz-DeBuse syndrome; Retinopathy-anemia-central nervous system anomalies syndrome; Dyskeratosis congenita with bilateral exudative retinopathy; Revesz syndrome (ORPHA:3088)
Gene: TINF2
Phenotype: Growth delay (HP:0001510)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: Revesz-DeBuse syndrome; Retinopathy-anemia-central nervous system anomalies syndrome; Dyskeratosis congenita with bilateral exudative retinopathy; Revesz syndrome (ORPHA:3088)
Gene: TINF2
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Interstitial pneumonitis (HP:0006515)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Blepharitis (HP:0000498)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Megalocornea (HP:0000485)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Squamous cell carcinoma of the skin (HP:0006739)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Cataract (HP:0000518)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Ridged nail (HP:0001807)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Nail pits (HP:0001803)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Nail pits (HP:0001803)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Leukocoria (HP:0000555)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Visual loss (HP:0000572)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Revesz-DeBuse syndrome; Retinopathy-anemia-central nervous system anomalies syndrome; Dyskeratosis congenita with bilateral exudative retinopathy; Revesz syndrome (ORPHA:3088)
Gene: TINF2
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Abnormal leukocyte morphology (HP:0001881)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TINF2
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TINF2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Pancytopenia (HP:0001876)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: SACS
Phenotype: Spastic ataxia (HP:0002497)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Progressive truncal ataxia (HP:0007221)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Ataxia (HP:0001251)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Ataxia (HP:0001251)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Spasticity (HP:0001257)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Spasticity (HP:0001257)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Abnormal pons morphology (HP:0007361)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Falls (HP:0002527)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Swan neck-like deformities of the fingers (HP:0006150)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Dysmetria (HP:0001310)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Parietal cortical atrophy (HP:0012104)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Dysphagia (HP:0002015)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Intention tremor (HP:0002080)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Decreased number of large peripheral myelinated nerve fibers (HP:0003387)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Babinski sign (HP:0003487)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Abnormal cerebellar peduncle morphology (HP:0011931)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Scanning speech (HP:0002168)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Loss of Purkinje cells in the cerebellar vermis (HP:0007001)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Hyperactive patellar reflex (HP:0007083)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Impaired tactile sensation (HP:0010830)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Peroneal muscle atrophy (HP:0009049)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Impotence (HP:0000802)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Abnormal motor evoked potentials (HP:0012896)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Pontine T2 hypointensity (HP:4000169)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Hypermyelinated retinal nerve fibers (HP:0007922)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Hypermyelinated retinal nerve fibers (HP:0007922)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Gaze-evoked horizontal nystagmus (HP:0007979)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Hammertoe (HP:0001765)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: SACS
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Autosomal recessive spastic ataxia type 6; ARSACS; SPAX6 (ORPHA:98)
Gene: SACS
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Gene: FGF20
Phenotype: Bilateral renal agenesis (HP:0010958)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 2 (OMIM:615721)
Gene: FGF20
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: FGF20
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: FGF20
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 2 (OMIM:615721)
Gene: FGF20
Phenotype: Cleft palate (HP:0000175)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: FGF20
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: FGF20
Phenotype: Potter facies (HP:0002009)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 2 (OMIM:615721)
Gene: FGF20
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: FGF20
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 2 (OMIM:615721)
Gene: FGF20
Phenotype: Urogenital fistula (HP:0100589)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: FGF20
Phenotype: Sirenomelia (HP:0010497)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: FGF20
Phenotype: Abnormal intestine morphology (HP:0002242)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: FGF20
Phenotype: Nonketotic hypoglycemia (HP:0001958)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: FGF20
Phenotype: Antenatal onset (HP:0030674)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 2 (OMIM:615721)
Gene: FGF20
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: FGF20
Phenotype: Non-midline cleft of the upper lip (HP:0100335)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: FGF20
Phenotype: Epicanthus (HP:0000286)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: FGF20
Phenotype: Abnormal sacrum morphology (HP:0005107)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: FGF20
Phenotype: Redundant skin (HP:0001582)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 2 (OMIM:615721)
Gene: FGF20
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)