TaoMedAI/RareMedData huggingface dataset:
Gene: DDHD2
Phenotype: Syringomyelia (HP:0003396)
Associated disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Gene: DDHD2
Phenotype: Rigidity (HP:0002063)
Associated disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Gene: DDHD2
Phenotype: Spastic gait (HP:0002064)
Associated disease: Autosomal recessive spastic paraplegia type 54; SPG54 (ORPHA:320380)
Gene: DDHD2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Gene: DDHD2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Autosomal recessive spastic paraplegia type 54; SPG54 (ORPHA:320380)
Gene: DDHD2
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Gene: DDHD2
Phenotype: Foot joint contracture (HP:0008366)
Associated disease: Autosomal recessive spastic paraplegia type 54; SPG54 (ORPHA:320380)
Gene: DDHD2
Phenotype: Progressive (HP:0003676)
Associated disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Gene: DDHD2
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Gene: DDHD2
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Gene: DDHD2
Phenotype: Short stature (HP:0004322)
Associated disease: Autosomal recessive spastic paraplegia type 54; SPG54 (ORPHA:320380)
Gene: DDHD2
Phenotype: Short stature (HP:0004322)
Associated disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Gene: DDHD2
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Gene: DDHD2
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: Autosomal recessive spastic paraplegia type 54; SPG54 (ORPHA:320380)
Gene: DDHD2
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Gene: DDHD2
Phenotype: Periventricular white matter hyperintensities (HP:0030891)
Associated disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Gene: DDHD2
Phenotype: Periventricular white matter hyperintensities (HP:0030891)
Associated disease: Autosomal recessive spastic paraplegia type 54; SPG54 (ORPHA:320380)
Gene: DDHD2
Phenotype: Optic disc hypoplasia (HP:0007766)
Associated disease: Autosomal recessive spastic paraplegia type 54; SPG54 (ORPHA:320380)
Gene: DDHD2
Phenotype: High palate (HP:0000218)
Associated disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Gene: DDHD2
Phenotype: High palate (HP:0000218)
Associated disease: Autosomal recessive spastic paraplegia type 54; SPG54 (ORPHA:320380)
Gene: DDHD2
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Autosomal recessive spastic paraplegia type 54; SPG54 (ORPHA:320380)
Gene: DDHD2
Phenotype: Hypomimic face (HP:0000338)
Associated disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Gene: DDHD2
Phenotype: Strabismus (HP:0000486)
Associated disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Gene: DDHD2
Phenotype: Strabismus (HP:0000486)
Associated disease: Autosomal recessive spastic paraplegia type 54; SPG54 (ORPHA:320380)
Gene: DDHD2
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Gene: DDHD2
Phenotype: Telecanthus (HP:0000506)
Associated disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Gene: CAMTA1
Phenotype: Nonprogressive cerebellar ataxia (HP:0002470)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Hippocampal atrophy (HP:0410170)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Seizure (HP:0001250)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Ataxia (HP:0001251)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Ataxia (HP:0001251)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Dysarthria (HP:0001260)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Dysmetria (HP:0001310)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Dysmetria (HP:0001310)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Constipation (HP:0002019)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Large forehead (HP:0002003)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Large forehead (HP:0002003)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Palpebral edema (HP:0100540)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Palpebral edema (HP:0100540)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Intention tremor (HP:0002080)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Hyperextensibility at elbow (HP:0010485)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Broad-based gait (HP:0002136)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Poor gross motor coordination (HP:0007015)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Hand tremor (HP:0002378)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Memory impairment (HP:0002354)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Drooling (HP:0002307)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Short palm (HP:0004279)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Short stature (HP:0004322)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Short ear (HP:0400005)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Short ear (HP:0400005)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: 2-4 toe cutaneous syndactyly (HP:0005768)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: 2-3 toe cutaneous syndactyly (HP:0005709)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Long face (HP:0000276)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Long face (HP:0000276)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: High palate (HP:0000218)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Hypoplastic hippocampus (HP:0025517)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Mesiodens (HP:0011067)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Low-set ears (HP:0000369)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Long philtrum (HP:0000343)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Broad forehead (HP:0000337)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Micrognathia (HP:0000347)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Pointed chin (HP:0000307)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Pointed chin (HP:0000307)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Generalized myoclonic-atonic seizure (HP:0011170)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Focal myoclonic seizure (HP:0011166)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Astigmatism (HP:0000483)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Strabismus (HP:0000486)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Strabismus (HP:0000486)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Chronic constipation (HP:0012450)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Flared nostrils (HP:0000454)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Wide nose (HP:0000445)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: CAMTA1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Protruding ear (HP:0000411)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Long eyelashes (HP:0000527)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: CAMTA1
Phenotype: Myopia (HP:0000545)
Associated disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Gene: PPIP5K2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 100 (OMIM:618422)
Gene: PPIP5K2
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 100 (OMIM:618422)
Gene: PPIP5K2
Phenotype: Abnormal fundus morphology (HP:0001098)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 100 (OMIM:618422)
Gene: PPIP5K2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 100 (OMIM:618422)
Gene: PPIP5K2
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 100 (OMIM:618422)
Gene: EXOC7
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY (OMIM:619072)
Gene: EXOC7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY (OMIM:619072)
Gene: EXOC7
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY (OMIM:619072)
Gene: EXOC7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY (OMIM:619072)
Gene: EXOC7
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY (OMIM:619072)
Gene: EXOC7
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY (OMIM:619072)
Gene: EXOC7
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY (OMIM:619072)
Gene: EXOC7
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY (OMIM:619072)
Gene: EXOC7
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY (OMIM:619072)
Gene: EXOC7
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY (OMIM:619072)
Gene: EXOC7
Phenotype: Decreased thalamic volume (HP:0012695)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY (OMIM:619072)
Gene: EXOC7
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY (OMIM:619072)
Gene: EXOC7
Phenotype: Fetal onset (HP:0011461)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY (OMIM:619072)
Gene: EXOC7
Phenotype: Retrognathia (HP:0000278)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY (OMIM:619072)
Gene: EXOC7
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY (OMIM:619072)
Gene: EXOC7
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY (OMIM:619072)
Gene: EXOC7
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY (OMIM:619072)
Gene: EXOC7
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY (OMIM:619072)
Gene: EXOC7
Phenotype: Long philtrum (HP:0000343)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY (OMIM:619072)
Gene: EXOC7
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY (OMIM:619072)
Gene: EXOC7
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY (OMIM:619072)
Gene: DNMBP
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: CATARACT 48 (OMIM:618415)
Gene: DNMBP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CATARACT 48 (OMIM:618415)
Gene: DNMBP
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CATARACT 48 (OMIM:618415)
Gene: DNMBP
Phenotype: Congenital onset (HP:0003577)
Associated disease: CATARACT 48 (OMIM:618415)
Gene: DNMBP
Phenotype: Amblyopia (HP:0000646)
Associated disease: CATARACT 48 (OMIM:618415)
Gene: DNMBP
Phenotype: Miosis (HP:0000616)
Associated disease: CATARACT 48 (OMIM:618415)
Gene: DNMBP
Phenotype: Cataract (HP:0000518)
Associated disease: CATARACT 48 (OMIM:618415)
Gene: DNMBP
Phenotype: Exotropia (HP:0000577)
Associated disease: CATARACT 48 (OMIM:618415)
Gene: NUP160
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP160
Phenotype: Peritonitis (HP:0002586)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)