TaoMedAI/RareMedData huggingface dataset:
Gene: ZNHIT3
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Peripheral edema (HP:0012398)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Narrow forehead (HP:0000341)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Undetectable visual evoked potentials (HP:0007965)
Associated disease: PEHO SYNDROME (OMIM:260565)
Gene: ZNHIT3
Phenotype: Macrotia (HP:0000400)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: ZNHIT3
Phenotype: Visual loss (HP:0000572)
Associated disease: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; PEHO syndrome (ORPHA:2836)
Gene: TGM5
Phenotype: Cleavage at junction of stratum corneum and stratum granulosum (HP:0034838)
Associated disease: PEELING SKIN SYNDROME 2 (OMIM:609796)
Gene: TGM5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PEELING SKIN SYNDROME 2 (OMIM:609796)
Gene: TGM5
Phenotype: Excessive wrinkling of palmar skin (HP:0007605)
Associated disease: Acral PSS; Peeling skin syndrome 2; PSS 2; Acral peeling skin syndrome; Localized PSS (ORPHA:263534)
Gene: TGM5
Phenotype: Papule (HP:0200034)
Associated disease: Acral PSS; Peeling skin syndrome 2; PSS 2; Acral peeling skin syndrome; Localized PSS (ORPHA:263534)
Gene: TGM5
Phenotype: Skin erosion (HP:0200041)
Associated disease: Acral PSS; Peeling skin syndrome 2; PSS 2; Acral peeling skin syndrome; Localized PSS (ORPHA:263534)
Gene: TGM5
Phenotype: High hypermetropia (HP:0008499)
Associated disease: Acral PSS; Peeling skin syndrome 2; PSS 2; Acral peeling skin syndrome; Localized PSS (ORPHA:263534)
Gene: TGM5
Phenotype: Erythema (HP:0010783)
Associated disease: PEELING SKIN SYNDROME 2 (OMIM:609796)
Gene: TGM5
Phenotype: Erythema (HP:0010783)
Associated disease: Acral PSS; Peeling skin syndrome 2; PSS 2; Acral peeling skin syndrome; Localized PSS (ORPHA:263534)
Gene: TGM5
Phenotype: Macule (HP:0012733)
Associated disease: Acral PSS; Peeling skin syndrome 2; PSS 2; Acral peeling skin syndrome; Localized PSS (ORPHA:263534)
Gene: TGM5
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Acral PSS; Peeling skin syndrome 2; PSS 2; Acral peeling skin syndrome; Localized PSS (ORPHA:263534)
Gene: TGM5
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Acral PSS; Peeling skin syndrome 2; PSS 2; Acral peeling skin syndrome; Localized PSS (ORPHA:263534)
Gene: TGM5
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Acral PSS; Peeling skin syndrome 2; PSS 2; Acral peeling skin syndrome; Localized PSS (ORPHA:263534)
Gene: TGM5
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Acral PSS; Peeling skin syndrome 2; PSS 2; Acral peeling skin syndrome; Localized PSS (ORPHA:263534)
Gene: TGM5
Phenotype: Scaling skin (HP:0040189)
Associated disease: Acral PSS; Peeling skin syndrome 2; PSS 2; Acral peeling skin syndrome; Localized PSS (ORPHA:263534)
Gene: TGM5
Phenotype: Scaling skin (HP:0040189)
Associated disease: PEELING SKIN SYNDROME 2 (OMIM:609796)
Gene: TGM5
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: PEELING SKIN SYNDROME 2 (OMIM:609796)
Gene: TGM5
Phenotype: Allergy (HP:0012393)
Associated disease: Acral PSS; Peeling skin syndrome 2; PSS 2; Acral peeling skin syndrome; Localized PSS (ORPHA:263534)
Gene: TCEAL1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: HIJAZI-REIS SYNDROME (OMIM:301094)
Gene: TCEAL1
Phenotype: Seizure (HP:0001250)
Associated disease: HIJAZI-REIS SYNDROME (OMIM:301094)
Gene: TCEAL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: HIJAZI-REIS SYNDROME (OMIM:301094)
Gene: TCEAL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HIJAZI-REIS SYNDROME (OMIM:301094)
Gene: TCEAL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HIJAZI-REIS SYNDROME (OMIM:301094)
Gene: TCEAL1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: HIJAZI-REIS SYNDROME (OMIM:301094)
Gene: TCEAL1
Phenotype: Recurrent ear infections (HP:0410018)
Associated disease: HIJAZI-REIS SYNDROME (OMIM:301094)
Gene: TCEAL1
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: HIJAZI-REIS SYNDROME (OMIM:301094)
Gene: TCEAL1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: HIJAZI-REIS SYNDROME (OMIM:301094)
Gene: TCEAL1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: HIJAZI-REIS SYNDROME (OMIM:301094)
Gene: TCEAL1
Phenotype: Infantile onset (HP:0003593)
Associated disease: HIJAZI-REIS SYNDROME (OMIM:301094)
Gene: TCEAL1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: HIJAZI-REIS SYNDROME (OMIM:301094)
Gene: TCEAL1
Phenotype: Developmental regression (HP:0002376)
Associated disease: HIJAZI-REIS SYNDROME (OMIM:301094)
Gene: TCEAL1
Phenotype: Nystagmus (HP:0000639)
Associated disease: HIJAZI-REIS SYNDROME (OMIM:301094)
Gene: TCEAL1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: HIJAZI-REIS SYNDROME (OMIM:301094)
Gene: TCEAL1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: HIJAZI-REIS SYNDROME (OMIM:301094)
Gene: TCEAL1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: HIJAZI-REIS SYNDROME (OMIM:301094)
Gene: TCEAL1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: HIJAZI-REIS SYNDROME (OMIM:301094)
Gene: TCEAL1
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: HIJAZI-REIS SYNDROME (OMIM:301094)
Gene: TCEAL1
Phenotype: Ankle clonus (HP:0011448)
Associated disease: HIJAZI-REIS SYNDROME (OMIM:301094)
Gene: TCEAL1
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: HIJAZI-REIS SYNDROME (OMIM:301094)
Gene: TCEAL1
Phenotype: Broad forehead (HP:0000337)
Associated disease: HIJAZI-REIS SYNDROME (OMIM:301094)
Gene: TCEAL1
Phenotype: Astigmatism (HP:0000483)
Associated disease: HIJAZI-REIS SYNDROME (OMIM:301094)
Gene: TCEAL1
Phenotype: Strabismus (HP:0000486)
Associated disease: HIJAZI-REIS SYNDROME (OMIM:301094)
Gene: TCEAL1
Phenotype: Chronic constipation (HP:0012450)
Associated disease: HIJAZI-REIS SYNDROME (OMIM:301094)
Gene: TCEAL1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: HIJAZI-REIS SYNDROME (OMIM:301094)
Gene: SNAP29
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME (OMIM:609528)
Gene: SNAP29
Phenotype: Poor head control (HP:0002421)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Poor head control (HP:0002421)
Associated disease: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME (OMIM:609528)
Gene: SNAP29
Phenotype: Stroke (HP:0001297)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME (OMIM:609528)
Gene: SNAP29
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME (OMIM:609528)
Gene: SNAP29
Phenotype: Areflexia (HP:0001284)
Associated disease: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME (OMIM:609528)
Gene: SNAP29
Phenotype: Areflexia (HP:0001284)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Seizure (HP:0001250)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Hypotonia (HP:0001252)
Associated disease: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME (OMIM:609528)
Gene: SNAP29
Phenotype: Ataxia (HP:0001251)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME (OMIM:609528)
Gene: SNAP29
Phenotype: Diffuse palmoplantar hyperkeratosis (HP:0007447)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME (OMIM:609528)
Gene: SNAP29
Phenotype: Death in childhood (HP:0003819)
Associated disease: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME (OMIM:609528)
Gene: SNAP29
Phenotype: Proteinuria (HP:0000093)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME (OMIM:609528)
Gene: SNAP29
Phenotype: Pachygyria (HP:0001302)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Pachygyria (HP:0001302)
Associated disease: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME (OMIM:609528)
Gene: SNAP29
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Hypogonadism (HP:0000135)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME (OMIM:609528)
Gene: SNAP29
Phenotype: Infantile onset (HP:0003593)
Associated disease: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME (OMIM:609528)
Gene: SNAP29
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME (OMIM:609528)
Gene: SNAP29
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME (OMIM:609528)
Gene: SNAP29
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME (OMIM:609528)
Gene: SNAP29
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Short stature (HP:0004322)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Abnormality of peripheral nerve conduction (HP:0003134)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME (OMIM:609528)
Gene: SNAP29
Phenotype: Ichthyosis (HP:0008064)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Ichthyosis (HP:0008064)
Associated disease: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME (OMIM:609528)
Gene: SNAP29
Phenotype: Long face (HP:0000276)
Associated disease: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME (OMIM:609528)
Gene: SNAP29
Phenotype: Long face (HP:0000276)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Optic disc hypoplasia (HP:0007766)
Associated disease: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME (OMIM:609528)
Gene: SNAP29
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME (OMIM:609528)
Gene: SNAP29
Phenotype: Microcephaly (HP:0000252)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME (OMIM:609528)
Gene: SNAP29
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME (OMIM:609528)
Gene: SNAP29
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME (OMIM:609528)
Gene: SNAP29
Phenotype: Macrotia (HP:0000400)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME (OMIM:609528)
Gene: SNAP29
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME (OMIM:609528)
Gene: SNAP29
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME (OMIM:609528)
Gene: SNAP29
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: SNAP29
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Gene: EFTUD2
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Abnormal middle ear morphology (HP:0008609)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Microtia (HP:0008551)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Microtia (HP:0008551)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Seizure (HP:0001250)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Seizure (HP:0001250)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Slender finger (HP:0001238)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Accessory oral frenulum (HP:0000191)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Cleft palate (HP:0000175)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Deep philtrum (HP:0002002)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Respiratory distress (HP:0002098)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Abnormal antihelix morphology (HP:0009738)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Large earlobe (HP:0009748)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)