TaoMedAI/RareMedData huggingface dataset:
Gene: MARS2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Autosomal recessive spastic ataxia type 3; Autosomal recessive spastic ataxia with leukoencephalopathy; ARSAL; SPAX3 (ORPHA:314603)
Gene: MARS2
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Autosomal recessive spastic ataxia type 3; Autosomal recessive spastic ataxia with leukoencephalopathy; ARSAL; SPAX3 (ORPHA:314603)
Gene: MARS2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)
Gene: MARS2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE (OMIM:611390)
Gene: MARS2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Autosomal recessive spastic ataxia type 3; Autosomal recessive spastic ataxia with leukoencephalopathy; ARSAL; SPAX3 (ORPHA:314603)
Gene: MARS2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)
Gene: MARS2
Phenotype: Middle age onset (HP:0003596)
Associated disease: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE (OMIM:611390)
Gene: MARS2
Phenotype: Congenital onset (HP:0003577)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)
Gene: MARS2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)
Gene: MARS2
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)
Gene: MARS2
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE (OMIM:611390)
Gene: MARS2
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: Autosomal recessive spastic ataxia type 3; Autosomal recessive spastic ataxia with leukoencephalopathy; ARSAL; SPAX3 (ORPHA:314603)
Gene: MARS2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE (OMIM:611390)
Gene: MARS2
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE (OMIM:611390)
Gene: MARS2
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE (OMIM:611390)
Gene: MARS2
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: Autosomal recessive spastic ataxia type 3; Autosomal recessive spastic ataxia with leukoencephalopathy; ARSAL; SPAX3 (ORPHA:314603)
Gene: MARS2
Phenotype: Short stature (HP:0004322)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)
Gene: MARS2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)
Gene: MARS2
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE (OMIM:611390)
Gene: MARS2
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE (OMIM:611390)
Gene: MARS2
Phenotype: Intraventricular hemorrhage (HP:0030746)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)
Gene: MARS2
Phenotype: Short nose (HP:0003196)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)
Gene: MARS2
Phenotype: Reduced circulating growth hormone concentration (HP:0034323)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)
Gene: MARS2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)
Gene: MARS2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE (OMIM:611390)
Gene: MARS2
Phenotype: Low-set ears (HP:0000369)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)
Gene: MARS2
Phenotype: Long philtrum (HP:0000343)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)
Gene: MARS2
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)
Gene: MARS2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)
Gene: MARS2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)
Gene: MARS2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)
Gene: MARS2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)
Gene: MARS2
Phenotype: Chronic constipation (HP:0012450)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)
Gene: MARS2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)
Gene: MARS2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)
Gene: ADAMTSL1
Phenotype: Tapered finger (HP:0001182)
Associated disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (ORPHA:521445)
Gene: ADAMTSL1
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (ORPHA:521445)
Gene: ADAMTSL1
Phenotype: Long fingers (HP:0100807)
Associated disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (ORPHA:521445)
Gene: ADAMTSL1
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (ORPHA:521445)
Gene: ADAMTSL1
Phenotype: Thyroid hypoplasia (HP:0005990)
Associated disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (ORPHA:521445)
Gene: ADAMTSL1
Phenotype: Migraine (HP:0002076)
Associated disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (ORPHA:521445)
Gene: ADAMTSL1
Phenotype: Abnormality of the palmar creases (HP:0010490)
Associated disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (ORPHA:521445)
Gene: ADAMTSL1
Phenotype: Vertebrobasilar dolichoectasia (HP:0020038)
Associated disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (ORPHA:521445)
Gene: ADAMTSL1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (ORPHA:521445)
Gene: ADAMTSL1
Phenotype: Delayed eruption of permanent teeth (HP:0000696)
Associated disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (ORPHA:521445)
Gene: ADAMTSL1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (ORPHA:521445)
Gene: ADAMTSL1
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (ORPHA:521445)
Gene: ADAMTSL1
Phenotype: Primary congenital glaucoma (HP:0008007)
Associated disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (ORPHA:521445)
Gene: ADAMTSL1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (ORPHA:521445)
Gene: ADAMTSL1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (ORPHA:521445)
Gene: ADAMTSL1
Phenotype: Square face (HP:0000321)
Associated disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (ORPHA:521445)
Gene: ADAMTSL1
Phenotype: Short philtrum (HP:0000322)
Associated disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (ORPHA:521445)
Gene: ADAMTSL1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (ORPHA:521445)
Gene: ADAMTSL1
Phenotype: Macrotia (HP:0000400)
Associated disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (ORPHA:521445)
Gene: ADAMTSL1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (ORPHA:521445)
Gene: ADAMTSL1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (ORPHA:521445)
Gene: ADAMTSL1
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (ORPHA:521445)
Gene: ADAMTSL1
Phenotype: Calcaneovalgus deformity (HP:0001848)
Associated disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (ORPHA:521445)
Gene: ADAMTSL1
Phenotype: Rieger anomaly (HP:0000558)
Associated disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (ORPHA:521445)
Gene: ADAMTSL1
Phenotype: Buphthalmos (HP:0000557)
Associated disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (ORPHA:521445)
Gene: ADAMTSL1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (ORPHA:521445)
Gene: ADAMTSL1
Phenotype: Myopia (HP:0000545)
Associated disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (ORPHA:521445)
Gene: PKHD1L1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 124 (OMIM:620794)
Gene: PKHD1L1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 124 (OMIM:620794)
Gene: PKHD1L1
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 124 (OMIM:620794)
Gene: PKHD1L1
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 124 (OMIM:620794)
Gene: PKHD1L1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 124 (OMIM:620794)
Gene: PKHD1L1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 124 (OMIM:620794)
Gene: PKHD1L1
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 124 (OMIM:620794)
Gene: PRDM6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PATENT DUCTUS ARTERIOSUS 3 (OMIM:617039)
Gene: PRDM6
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: PATENT DUCTUS ARTERIOSUS 3 (OMIM:617039)
Gene: PIGM
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 (OMIM:610293)
Gene: PIGM
Phenotype: Portal hypertension (HP:0001409)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 (OMIM:610293)
Gene: PIGM
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 (OMIM:610293)
Gene: PIGM
Phenotype: Infantile onset (HP:0003593)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 (OMIM:610293)
Gene: PIGM
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 (OMIM:610293)
Gene: PIGM
Phenotype: Atonic seizure (HP:0010819)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 (OMIM:610293)
Gene: PIGM
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 (OMIM:610293)
Gene: PIGM
Phenotype: Abnormal bone marrow cell morphology (HP:0005561)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 (OMIM:610293)
Gene: PIGM
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 (OMIM:610293)
Gene: PIGM
Phenotype: Childhood onset (HP:0011463)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 (OMIM:610293)
Gene: PIGM
Phenotype: Reduced granulocyte CD59 level (HP:0031555)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 (OMIM:610293)
Gene: PIGM
Phenotype: Hepatic vein thrombosis (HP:0030243)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 (OMIM:610293)
Gene: PIGM
Phenotype: Portal vein thrombosis (HP:0030242)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 (OMIM:610293)
Gene: PIGM
Phenotype: Splenomegaly (HP:0001744)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 (OMIM:610293)
Gene: PGAP3
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Bruxism (HP:0003763)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Gene: PGAP3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Seizure (HP:0001250)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Seizure (HP:0001250)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Gene: PGAP3
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Gene: PGAP3
Phenotype: Ataxia (HP:0001251)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Gene: PGAP3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Gene: PGAP3
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Shortening of all distal phalanges of the fingers (HP:0006118)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Shortening of all distal phalanges of the fingers (HP:0006118)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Gene: PGAP3
Phenotype: Inability to walk (HP:0002540)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Gene: PGAP3
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Abnormal parietal bone morphology (HP:0002696)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Gene: PGAP3
Phenotype: Absent speech (HP:0001344)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Gene: PGAP3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Gene: PGAP3
Phenotype: Myoclonus (HP:0001336)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Cleft palate (HP:0000175)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Gene: PGAP3
Phenotype: Floppy infant (HP:0008947)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Gene: PGAP3
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Gene: PGAP3
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Gene: PGAP3
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Large earlobe (HP:0009748)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Gene: PGAP3
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Telangiectasia (HP:0001009)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Gene: PGAP3
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Gene: PGAP3
Phenotype: Involuntary movements (HP:0004305)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Gene: PGAP3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Short nose (HP:0003196)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Gene: PGAP3
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Gene: PGAP3
Phenotype: Increased head circumference (HP:0040194)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Decreased head circumference (HP:0040195)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Epicanthus (HP:0000286)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Broad philtrum (HP:0000289)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Microcephaly (HP:0000252)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Gene: PGAP3
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Gene: PGAP3
Phenotype: High palate (HP:0000218)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Growth delay (HP:0001510)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Growth delay (HP:0001510)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Gene: PGAP3
Phenotype: Cupped ear (HP:0000378)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Thickened helices (HP:0000391)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Micrognathia (HP:0000347)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)