TaoMedAI/RareMedData huggingface dataset:
Gene: SRPX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED (OMIM:300643)
Gene: SRPX2
Phenotype: Dysmetria (HP:0001310)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Laryngospasm (HP:0025425)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: SRPX2
Phenotype: Floppy infant (HP:0008947)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: SRPX2
Phenotype: Migraine (HP:0002076)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: SRPX2
Phenotype: Ectopic posterior pituitary (HP:0011755)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Apnea (HP:0002104)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Sleep apnea (HP:0010535)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: SRPX2
Phenotype: Paresthesia (HP:0003401)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: SRPX2
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Cerebellar dysplasia (HP:0007033)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Pseudobulbar paralysis (HP:0007024)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: SRPX2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Paraparesis (HP:0002385)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: SRPX2
Phenotype: Protruding tongue (HP:0010808)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Drooling (HP:0002307)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: SRPX2
Phenotype: Drooling (HP:0002307)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Drooling (HP:0002307)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: SRPX2
Phenotype: Perisylvian predominant thick cortex pachygyria (HP:0020190)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: SRPX2
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: SRPX2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Anxiety (HP:0000739)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: SRPX2
Phenotype: Short attention span (HP:0000736)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: SRPX2
Phenotype: Short attention span (HP:0000736)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: SRPX2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: SRPX2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Depression (HP:0000716)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: SRPX2
Phenotype: Emotional lability (HP:0000712)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: SRPX2
Phenotype: Abnormally low-pitched voice (HP:0010300)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: SRPX2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Aspiration (HP:0002835)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Speech apraxia (HP:0011098)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: SRPX2
Phenotype: Speech apraxia (HP:0011098)
Associated disease: ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED (OMIM:300643)
Gene: SRPX2
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: SRPX2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Abnormal prosody (HP:0031434)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: SRPX2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Continuous spike and waves during slow sleep (HP:0031491)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: SRPX2
Phenotype: EEG with focal sharp waves (HP:0011196)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: SRPX2
Phenotype: EEG with generalized epileptiform discharges (HP:0011198)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: SRPX2
Phenotype: Focal sensory seizure (HP:0011157)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: EEG with centrotemporal focal spike waves (HP:0012557)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: SRPX2
Phenotype: Dysesthesia (HP:0012534)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: PGAP2
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Motor delay (HP:0001270)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Seizure (HP:0001250)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Seizure (HP:0001250)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Ataxia (HP:0001251)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Shortening of all distal phalanges of the fingers (HP:0006118)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Shortening of all distal phalanges of the fingers (HP:0006118)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Inability to walk (HP:0002540)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Abnormal parietal bone morphology (HP:0002696)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Absent speech (HP:0001344)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Myoclonus (HP:0001336)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Scoliosis (HP:0002650)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Cleft palate (HP:0000175)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Wide mouth (HP:0000154)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Floppy infant (HP:0008947)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Anal stenosis (HP:0002025)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Hypoplastic fifth fingernail (HP:0008398)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Telangiectasia (HP:0001009)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Short stature (HP:0004322)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Short nose (HP:0003196)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Increased head circumference (HP:0040194)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Decreased head circumference (HP:0040195)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Broad philtrum (HP:0000289)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Microcephaly (HP:0000252)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: High palate (HP:0000218)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Growth delay (HP:0001510)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Cupped ear (HP:0000378)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Thickened helices (HP:0000391)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Round face (HP:0000311)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Short philtrum (HP:0000322)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)