TaoMedAI/RareMedData huggingface dataset:
Gene: PIGG
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Aplasia cutis congenita of scalp (HP:0007385)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Abnormality of the genital system (HP:0000078)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Hypospadias (HP:0000047)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Calvarial skull defect (HP:0001362)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Hypoplastic pubic ramus (HP:0008830)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Absent speech (HP:0001344)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 (OMIM:616917)
Gene: PIGG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 (OMIM:616917)
Gene: PIGG
Phenotype: Scoliosis (HP:0002650)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 (OMIM:616917)
Gene: PIGG
Phenotype: Abnormal lip morphology (HP:0000159)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Cleft palate (HP:0000175)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Abnormality of the mouth (HP:0000153)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Aplasia of the uterus (HP:0000151)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Abdominal situs inversus (HP:0003363)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Gait ataxia (HP:0002066)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Muscle spasm (HP:0003394)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 (OMIM:616917)
Gene: PIGG
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 (OMIM:616917)
Gene: PIGG
Phenotype: Streak ovary (HP:0010464)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Tethered cord (HP:0002144)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Gait imbalance (HP:0002141)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 (OMIM:616917)
Gene: PIGG
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Hypermobility of toe joints (HP:0010510)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 (OMIM:616917)
Gene: PIGG
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Hernia (HP:0100790)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Hemangioma (HP:0001028)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Drowsiness (HP:0002329)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Short thumb (HP:0009778)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 (OMIM:616917)
Gene: PIGG
Phenotype: Nystagmus (HP:0000639)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Sclerocornea (HP:0000647)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Taurodontia (HP:0000679)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Hypodontia (HP:0000668)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 (OMIM:616917)
Gene: PIGG
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Autistic behavior (HP:0000729)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Fetal onset (HP:0011461)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 (OMIM:616917)
Gene: PIGG
Phenotype: Short hallux (HP:0010109)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Rib fusion (HP:0000902)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 (OMIM:616917)
Gene: PIGG
Phenotype: Preauricular pit (HP:0004467)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Dry skin (HP:0000958)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Pes valgus (HP:0008081)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Epicanthus (HP:0000286)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Abnormality of the philtrum (HP:0000288)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Kyphosis (HP:0002808)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Microcephaly (HP:0000252)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Abnormal lateral ventricle morphology (HP:0030047)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 (OMIM:616917)
Gene: PIGG
Phenotype: Growth delay (HP:0001510)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Abnormality of the gallbladder (HP:0005264)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: High forehead (HP:0000348)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Micrognathia (HP:0000347)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Short philtrum (HP:0000322)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: EEG with focal spikes (HP:0011193)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: EEG with focal spikes (HP:0011193)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 (OMIM:616917)
Gene: PIGG
Phenotype: Rib segmentation abnormalities (HP:0006655)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Strabismus (HP:0000486)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Megalocornea (HP:0000485)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Retinopathy (HP:0000488)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Pes planus (HP:0001763)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Wide nose (HP:0000445)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: PIGG
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Aplasia/Hypoplasia of the lungs (HP:0006703)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Aplasia/Hypoplasia of the nipples (HP:0006709)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Proptosis (HP:0000520)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Ptosis (HP:0000508)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Glaucoma (HP:0000501)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: PIGG
Phenotype: Hypermetropia (HP:0000540)
Associated disease: PIGG-CDG; Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency (ORPHA:488635)
Gene: BCOR
Phenotype: Broad palm (HP:0001169)
Associated disease: OFCD syndrome; Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome (ORPHA:2712)