TaoMedAI/RareMedData huggingface dataset:
Gene: SNX14
Phenotype: Abnormal skeletal morphology (HP:0011842)
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: Infantile onset (HP:0003593)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Facial hypertrichosis (HP:0002219)
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: Neuropathic spinal arthropathy (HP:0008443)
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: Neonatal onset (HP:0003623)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Nystagmus (HP:0000639)
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: Severe global developmental delay (HP:0011344)
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 eruption of teeth (HP:0000684)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Dental crowding (HP:0000678)
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: Dental crowding (HP:0000678)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Retrocerebellar cyst (HP:0006951)
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: Short palpebral fissure (HP:0012745)
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: Short palpebral fissure (HP:0012745)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Pectus carinatum (HP:0000768)
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 speech and language development (HP:0000750)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Delayed speech and language development (HP:0000750)
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: Autistic behavior (HP:0000729)
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: Autistic behavior (HP:0000729)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Relative macrocephaly (HP:0004482)
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: Relative macrocephaly (HP:0004482)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Wide nasal base (HP:0012810)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Wide nasal base (HP:0012810)
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: Hypertrichosis (HP:0000998)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Epicanthus (HP:0000286)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Broad face (HP:0000283)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Coarse facial features (HP:0000280)
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: Coarse facial features (HP:0000280)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Full cheeks (HP:0000293)
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: Broad philtrum (HP:0000289)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Broad philtrum (HP:0000289)
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: Clinodactyly (HP:0030084)
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: Clinodactyly (HP:0030084)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: High palate (HP:0000218)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: High palate (HP:0000218)
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: Camptodactyly (HP:0012385)
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: Camptodactyly (HP:0012385)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Long philtrum (HP:0000343)
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: Long philtrum (HP:0000343)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Small forehead (HP:0000350)
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: Patent ductus arteriosus (HP:0001643)
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: Pointed chin (HP:0000307)
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: Atrial septal defect (HP:0001631)
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: Sensorineural hearing impairment (HP:0000407)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Sensorineural hearing impairment (HP:0000407)
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: Depressed nasal bridge (HP:0005280)
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: Thick vermilion border (HP:0012471)
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: Thick vermilion border (HP:0012471)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Delayed early-childhood social milestone development (HP:0012434)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Bulbous nose (HP:0000414)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Splenomegaly (HP:0001744)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Talipes equinovarus (HP:0001762)
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: Talipes equinovarus (HP:0001762)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SNX14
Phenotype: Wide nasal bridge (HP:0000431)
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: Telecanthus (HP:0000506)
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: Prominent forehead (HP:0011220)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Gene: SLC4A10
Phenotype: Tapered finger (HP:0001182)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Chorea (HP:0002072)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Ankle contracture (HP:0034677)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Thick corpus callosum (HP:0007074)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Developmental regression (HP:0002376)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Short corpus callosum (HP:0200012)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Scarring (HP:0100699)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Hypotelorism (HP:0000601)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Synophrys (HP:0000664)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Hyperactivity (HP:0000752)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Anxiety (HP:0000739)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Lambdoidal craniosynostosis (HP:0004443)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Inverted nipples (HP:0003186)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Appendicular spasticity (HP:0034353)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Slit-like lateral ventricle (HP:6000989)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Retrognathia (HP:0000278)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Long face (HP:0000276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Coxa vara (HP:0002812)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Small for gestational age (HP:0001518)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Appendicular hypotonia (HP:0012389)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Long philtrum (HP:0000343)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Macrotia (HP:0000400)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Protruding ear (HP:0000411)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Long eyelashes (HP:0000527)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: SLC4A10
Phenotype: Visual impairment (HP:0000505)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Gene: JPH3
Phenotype: Primitive reflex (HP:0002476)
Associated disease: Huntington disease-like 2; HDL2 (ORPHA:98934)
Gene: JPH3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Huntington disease-like 2; HDL2 (ORPHA:98934)
Gene: JPH3
Phenotype: Dysarthria (HP:0001260)
Associated disease: HUNTINGTON DISEASE-LIKE 2 (OMIM:606438)
Gene: JPH3
Phenotype: Abnormal corpus striatum morphology (HP:0010994)
Associated disease: Huntington disease-like 2; HDL2 (ORPHA:98934)
Gene: JPH3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Huntington disease-like 2; HDL2 (ORPHA:98934)
Gene: JPH3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: HUNTINGTON DISEASE-LIKE 2 (OMIM:606438)
Gene: JPH3
Phenotype: Dystonia (HP:0001332)
Associated disease: Huntington disease-like 2; HDL2 (ORPHA:98934)
Gene: JPH3
Phenotype: Dystonia (HP:0001332)
Associated disease: HUNTINGTON DISEASE-LIKE 2 (OMIM:606438)
Gene: JPH3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HUNTINGTON DISEASE-LIKE 2 (OMIM:606438)
Gene: JPH3
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Huntington disease-like 2; HDL2 (ORPHA:98934)
Gene: JPH3
Phenotype: Bradykinesia (HP:0002067)
Associated disease: HUNTINGTON DISEASE-LIKE 2 (OMIM:606438)
Gene: JPH3
Phenotype: Rigidity (HP:0002063)
Associated disease: HUNTINGTON DISEASE-LIKE 2 (OMIM:606438)
Gene: JPH3
Phenotype: Abnormal cerebral morphology (HP:0002060)
Associated disease: Huntington disease-like 2; HDL2 (ORPHA:98934)
Gene: JPH3
Phenotype: Chorea (HP:0002072)
Associated disease: Huntington disease-like 2; HDL2 (ORPHA:98934)