TaoMedAI/RareMedData huggingface dataset:
Gene: FAT4
Phenotype: Glaucoma (HP:0000501)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: FAT4
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 (OMIM:616006)
Gene: FAT4
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: FAT4
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: VAN MALDERGEM SYNDROME 2 (OMIM:615546)
Gene: FAT4
Phenotype: Prominent forehead (HP:0011220)
Associated disease: VAN MALDERGEM SYNDROME 2 (OMIM:615546)
Gene: FAT4
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: FAT4
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TMEM53
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Broad ischia (HP:0100865)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Pediatric onset (HP:0410280)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Thin bony cortex (HP:0002753)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Prominent glabella (HP:0002057)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: 3-4 finger cutaneous syndactyly (HP:0011939)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Short palm (HP:0004279)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Short stature (HP:0004322)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Gynecomastia (HP:0000771)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Mydriasis (HP:0011499)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Platyspondyly (HP:0000926)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Broad ribs (HP:0000885)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Diaphyseal dysplasia (HP:0100252)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Epicanthus (HP:0000286)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Coarse facial features (HP:0000280)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Broad femoral neck (HP:0006429)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Long philtrum (HP:0000343)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Increased intervertebral space (HP:0030320)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Strabismus (HP:0000486)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Proptosis (HP:0000520)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Visual impairment (HP:0000505)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: TMEM53
Phenotype: Prominent forehead (HP:0011220)
Associated disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Gene: ROGDI
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Kohlschütter-Tönz syndrome; Amelocerebrohypohidrotic syndrome; Epilepsy-dementia-amelogenesis imperfecta syndrome (ORPHA:1946)
Gene: ROGDI
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME (OMIM:226750)
Gene: ROGDI
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Kohlschütter-Tönz syndrome; Amelocerebrohypohidrotic syndrome; Epilepsy-dementia-amelogenesis imperfecta syndrome (ORPHA:1946)
Gene: ROGDI
Phenotype: Seizure (HP:0001250)
Associated disease: Kohlschütter-Tönz syndrome; Amelocerebrohypohidrotic syndrome; Epilepsy-dementia-amelogenesis imperfecta syndrome (ORPHA:1946)
Gene: ROGDI
Phenotype: Seizure (HP:0001250)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME (OMIM:226750)
Gene: ROGDI
Phenotype: Ataxia (HP:0001251)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME (OMIM:226750)
Gene: ROGDI
Phenotype: Intellectual disability (HP:0001249)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME (OMIM:226750)
Gene: ROGDI
Phenotype: Global developmental delay (HP:0001263)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME (OMIM:226750)
Gene: ROGDI
Phenotype: Spasticity (HP:0001257)
Associated disease: Kohlschütter-Tönz syndrome; Amelocerebrohypohidrotic syndrome; Epilepsy-dementia-amelogenesis imperfecta syndrome (ORPHA:1946)
Gene: ROGDI
Phenotype: Spasticity (HP:0001257)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME (OMIM:226750)
Gene: ROGDI
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME (OMIM:226750)
Gene: ROGDI
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME (OMIM:226750)
Gene: ROGDI
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME (OMIM:226750)
Gene: ROGDI
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME (OMIM:226750)
Gene: ROGDI
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME (OMIM:226750)
Gene: ROGDI
Phenotype: Yellow-brown discoloration of the teeth (HP:0006286)
Associated disease: Kohlschütter-Tönz syndrome; Amelocerebrohypohidrotic syndrome; Epilepsy-dementia-amelogenesis imperfecta syndrome (ORPHA:1946)
Gene: ROGDI
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME (OMIM:226750)
Gene: ROGDI
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME (OMIM:226750)
Gene: ROGDI
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME (OMIM:226750)
Gene: ROGDI
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME (OMIM:226750)
Gene: ROGDI
Phenotype: Developmental regression (HP:0002376)
Associated disease: Kohlschütter-Tönz syndrome; Amelocerebrohypohidrotic syndrome; Epilepsy-dementia-amelogenesis imperfecta syndrome (ORPHA:1946)
Gene: ROGDI
Phenotype: Developmental regression (HP:0002376)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME (OMIM:226750)
Gene: ROGDI
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Kohlschütter-Tönz syndrome; Amelocerebrohypohidrotic syndrome; Epilepsy-dementia-amelogenesis imperfecta syndrome (ORPHA:1946)
Gene: ROGDI
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Kohlschütter-Tönz syndrome; Amelocerebrohypohidrotic syndrome; Epilepsy-dementia-amelogenesis imperfecta syndrome (ORPHA:1946)
Gene: ROGDI
Phenotype: Short stature (HP:0004322)
Associated disease: Kohlschütter-Tönz syndrome; Amelocerebrohypohidrotic syndrome; Epilepsy-dementia-amelogenesis imperfecta syndrome (ORPHA:1946)
Gene: ROGDI
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME (OMIM:226750)
Gene: ROGDI
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME (OMIM:226750)
Gene: ROGDI
Phenotype: Dementia (HP:0000726)
Associated disease: Kohlschütter-Tönz syndrome; Amelocerebrohypohidrotic syndrome; Epilepsy-dementia-amelogenesis imperfecta syndrome (ORPHA:1946)
Gene: ROGDI
Phenotype: Dementia (HP:0000726)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME (OMIM:226750)
Gene: ROGDI
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME (OMIM:226750)
Gene: ROGDI
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: Kohlschütter-Tönz syndrome; Amelocerebrohypohidrotic syndrome; Epilepsy-dementia-amelogenesis imperfecta syndrome (ORPHA:1946)
Gene: ROGDI
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Kohlschütter-Tönz syndrome; Amelocerebrohypohidrotic syndrome; Epilepsy-dementia-amelogenesis imperfecta syndrome (ORPHA:1946)
Gene: ROGDI
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Kohlschütter-Tönz syndrome; Amelocerebrohypohidrotic syndrome; Epilepsy-dementia-amelogenesis imperfecta syndrome (ORPHA:1946)
Gene: ROGDI
Phenotype: Microcephaly (HP:0000252)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME (OMIM:226750)
Gene: ROGDI
Phenotype: Abnormality of dental color (HP:0011073)
Associated disease: Kohlschütter-Tönz syndrome; Amelocerebrohypohidrotic syndrome; Epilepsy-dementia-amelogenesis imperfecta syndrome (ORPHA:1946)
Gene: ROGDI
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: KOHLSCHUTTER-TONZ SYNDROME (OMIM:226750)
Gene: SRD5A3
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SRD5A3
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: KAHRIZI SYNDROME (OMIM:612713)
Gene: SRD5A3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Motor delay (HP:0001270)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Motor delay (HP:0001270)
Associated disease: KAHRIZI SYNDROME (OMIM:612713)
Gene: SRD5A3
Phenotype: Seizure (HP:0001250)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Seizure (HP:0001250)
Associated disease: KAHRIZI SYNDROME (OMIM:612713)
Gene: SRD5A3
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Ataxia (HP:0001251)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Spasticity (HP:0001257)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SRD5A3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: KAHRIZI SYNDROME (OMIM:612713)
Gene: SRD5A3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SRD5A3
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SRD5A3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SRD5A3
Phenotype: Floppy infant (HP:0008947)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Dysphagia (HP:0002015)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Infantile onset (HP:0003593)
Associated disease: KAHRIZI SYNDROME (OMIM:612713)
Gene: SRD5A3
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Congenital onset (HP:0003577)
Associated disease: KAHRIZI SYNDROME (OMIM:612713)
Gene: SRD5A3
Phenotype: Abnormal cerebellar vermis morphology (HP:0002334)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Type I transferrin isoform profile (HP:0003642)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Type I transferrin isoform profile (HP:0003642)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SRD5A3
Phenotype: Spotty hyperpigmentation (HP:0005585)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Nystagmus (HP:0000639)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Nystagmus (HP:0000639)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Reduced antithrombin III activity (HP:0001976)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Reduced antithrombin III activity (HP:0001976)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Iris coloboma (HP:0000612)
Associated disease: KAHRIZI SYNDROME (OMIM:612713)
Gene: SRD5A3
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Oligodontia (HP:0000677)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SRD5A3
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Short stature (HP:0004322)
Associated disease: KAHRIZI SYNDROME (OMIM:612713)
Gene: SRD5A3
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SRD5A3
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SRD5A3
Phenotype: Inverted nipples (HP:0003186)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Elbow contracture (HP:0034391)
Associated disease: KAHRIZI SYNDROME (OMIM:612713)
Gene: SRD5A3
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Cutis laxa (HP:0000973)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Dry skin (HP:0000958)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Ichthyosis (HP:0008064)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Ichthyosis (HP:0008064)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Abnormal sacrum morphology (HP:0005107)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Optic disc hypoplasia (HP:0007766)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SRD5A3
Phenotype: Kyphosis (HP:0002808)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: KAHRIZI SYNDROME (OMIM:612713)
Gene: SRD5A3
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SRD5A3
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: KAHRIZI SYNDROME (OMIM:612713)
Gene: SRD5A3
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)