TaoMedAI/RareMedData huggingface dataset:
Gene: TTC7A
Phenotype: Recurrent abscess formation (HP:0002722)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Impaired lymphocyte transformation with phytohemagglutinin (HP:0003347)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Colonic atresia (HP:0010448)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Peritoneal abscess (HP:0100592)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Congenital onset (HP:0003577)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Rectal atresia (HP:0025023)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Bloody diarrhea (HP:0025085)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Bloody diarrhea (HP:0025085)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Thickened skin (HP:0001072)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Ectopic calcification (HP:0010766)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Enterocolitis (HP:0004387)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Hypoplasia of the thymus (HP:0000778)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Hypoplasia of the thymus (HP:0000778)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Agammaglobulinemia (HP:0004432)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Hashimoto thyroiditis (HP:0000872)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Sparse hair (HP:0008070)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Death in infancy (HP:0001522)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Omphalocele (HP:0001539)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Omphalocele (HP:0001539)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Jejunal atresia (HP:0005235)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Jejunoileal ulceration (HP:0005229)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Rectal abscess (HP:0005224)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Autoimmunity (HP:0002960)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Ileal atresia (HP:0011102)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Intestinal atresia (HP:0011100)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Intestinal atresia (HP:0011100)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: TTC7A
Phenotype: Prominent forehead (HP:0011220)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: TTC7A
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Gene: ERGIC1
Phenotype: Areflexia (HP:0001284)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Acetabular dysplasia (HP:0008807)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 2, NEUROGENIC TYPE (OMIM:208100)
Gene: ERGIC1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Myopathic facies (HP:0002058)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Equinovarus deformity (HP:0008110)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Congenital onset (HP:0003577)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 2, NEUROGENIC TYPE (OMIM:208100)
Gene: ERGIC1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Fasciculations (HP:0002380)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Skin dimple (HP:0010781)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 2, NEUROGENIC TYPE (OMIM:208100)
Gene: ERGIC1
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Myopathy (HP:0003198)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 2, NEUROGENIC TYPE (OMIM:208100)
Gene: ERGIC1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 2, NEUROGENIC TYPE (OMIM:208100)
Gene: ERGIC1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Hip contracture (HP:0003273)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Congenital contracture (HP:0002803)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 2, NEUROGENIC TYPE (OMIM:208100)
Gene: ERGIC1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 2, NEUROGENIC TYPE (OMIM:208100)
Gene: ERGIC1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Breech presentation (HP:0001623)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: ERGIC1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 2, NEUROGENIC TYPE (OMIM:208100)
Gene: ERGIC1
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SNX14
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome; Autosomal recessive spinocerebellar ataxia type 20; SCAR20 (ORPHA:397709)
Gene: SNX14
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome; Autosomal recessive spinocerebellar ataxia type 20; SCAR20 (ORPHA:397709)
Gene: SNX14
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome; Autosomal recessive spinocerebellar ataxia type 20; SCAR20 (ORPHA:397709)
Gene: SNX14
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Seizure (HP:0001250)
Associated disease: Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome; Autosomal recessive spinocerebellar ataxia type 20; SCAR20 (ORPHA:397709)
Gene: SNX14
Phenotype: Seizure (HP:0001250)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Hypotonia (HP:0001252)
Associated disease: Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome; Autosomal recessive spinocerebellar ataxia type 20; SCAR20 (ORPHA:397709)
Gene: SNX14
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Ataxia (HP:0001251)
Associated disease: Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome; Autosomal recessive spinocerebellar ataxia type 20; SCAR20 (ORPHA:397709)
Gene: SNX14
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome; Autosomal recessive spinocerebellar ataxia type 20; SCAR20 (ORPHA:397709)
Gene: SNX14
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Spasticity (HP:0001257)
Associated disease: Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome; Autosomal recessive spinocerebellar ataxia type 20; SCAR20 (ORPHA:397709)
Gene: SNX14
Phenotype: Spasticity (HP:0001257)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome; Autosomal recessive spinocerebellar ataxia type 20; SCAR20 (ORPHA:397709)
Gene: SNX14
Phenotype: Inability to walk (HP:0002540)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome; Autosomal recessive spinocerebellar ataxia type 20; SCAR20 (ORPHA:397709)
Gene: SNX14
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome; Autosomal recessive spinocerebellar ataxia type 20; SCAR20 (ORPHA:397709)
Gene: SNX14
Phenotype: Absent speech (HP:0001344)
Associated disease: Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome; Autosomal recessive spinocerebellar ataxia type 20; SCAR20 (ORPHA:397709)
Gene: SNX14
Phenotype: Absent speech (HP:0001344)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Macroglossia (HP:0000158)
Associated disease: Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome; Autosomal recessive spinocerebellar ataxia type 20; SCAR20 (ORPHA:397709)
Gene: SNX14
Phenotype: Macroglossia (HP:0000158)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome; Autosomal recessive spinocerebellar ataxia type 20; SCAR20 (ORPHA:397709)
Gene: SNX14
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome; Autosomal recessive spinocerebellar ataxia type 20; SCAR20 (ORPHA:397709)
Gene: SNX14
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome; Autosomal recessive spinocerebellar ataxia type 20; SCAR20 (ORPHA:397709)
Gene: SNX14
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Deep philtrum (HP:0002002)
Associated disease: Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome; Autosomal recessive spinocerebellar ataxia type 20; SCAR20 (ORPHA:397709)
Gene: SNX14
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome; Autosomal recessive spinocerebellar ataxia type 20; SCAR20 (ORPHA:397709)
Gene: SNX14
Phenotype: Palpebral edema (HP:0100540)
Associated disease: Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome; Autosomal recessive spinocerebellar ataxia type 20; SCAR20 (ORPHA:397709)
Gene: SNX14
Phenotype: Oligosacchariduria (HP:0010471)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Oligosacchariduria (HP:0010471)
Associated disease: Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome; Autosomal recessive spinocerebellar ataxia type 20; SCAR20 (ORPHA:397709)
Gene: SNX14
Phenotype: Babinski sign (HP:0003487)
Associated disease: Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome; Autosomal recessive spinocerebellar ataxia type 20; SCAR20 (ORPHA:397709)
Gene: SNX14
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome; Autosomal recessive spinocerebellar ataxia type 20; SCAR20 (ORPHA:397709)
Gene: SNX14
Phenotype: Apraxia (HP:0002186)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Apraxia (HP:0002186)
Associated disease: Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome; Autosomal recessive spinocerebellar ataxia type 20; SCAR20 (ORPHA:397709)
Gene: SNX14
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome; Autosomal recessive spinocerebellar ataxia type 20; SCAR20 (ORPHA:397709)
Gene: SNX14
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)