TaoMedAI/RareMedData huggingface dataset:
Gene: COG5
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Micropenis (HP:0000054)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi (OMIM:613612)
Gene: COG5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi (OMIM:613612)
Gene: COG5
Phenotype: Floppy infant (HP:0008947)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi (OMIM:613612)
Gene: COG5
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi (OMIM:613612)
Gene: COG5
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Premature skin wrinkling (HP:0100678)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Short stature (HP:0004322)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Short stature (HP:0004322)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi (OMIM:613612)
Gene: COG5
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi (OMIM:613612)
Gene: COG5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Autistic behavior (HP:0000729)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Abnormal isoelectric focusing of serum transferrin (HP:0003160)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Finger clinodactyly (HP:0040019)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Retrognathia (HP:0000278)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Microcephaly (HP:0000252)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi (OMIM:613612)
Gene: COG5
Phenotype: High palate (HP:0000218)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Genu valgum (HP:0002857)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi (OMIM:613612)
Gene: COG5
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Low-set ears (HP:0000369)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Type II transferrin isoform profile (HP:0012301)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi (OMIM:613612)
Gene: COG5
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Strabismus (HP:0000486)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Delayed myelination (HP:0012448)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Brain atrophy (HP:0012444)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Short neck (HP:0000470)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Prominent nose (HP:0000448)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Abnormality of the frontal hairline (HP:0000599)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: ZBTB18
Phenotype: Fetal pyelectasis (HP:0010945)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Bruxism (HP:0003763)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Seizure (HP:0001250)
Associated disease: Distal deletion 1q syndrome; Telomeric deletion 1q; Monosomy 1qter; Distal monosomy 1q (ORPHA:36367)
Gene: ZBTB18
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Distal deletion 1q syndrome; Telomeric deletion 1q; Monosomy 1qter; Distal monosomy 1q (ORPHA:36367)
Gene: ZBTB18
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Distal deletion 1q syndrome; Telomeric deletion 1q; Monosomy 1qter; Distal monosomy 1q (ORPHA:36367)
Gene: ZBTB18
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Distal deletion 1q syndrome; Telomeric deletion 1q; Monosomy 1qter; Distal monosomy 1q (ORPHA:36367)
Gene: ZBTB18
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Choroid plexus cyst (HP:0002190)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Proportionate short stature (HP:0003508)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Developmental regression (HP:0002376)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Short stature (HP:0004322)
Associated disease: Distal deletion 1q syndrome; Telomeric deletion 1q; Monosomy 1qter; Distal monosomy 1q (ORPHA:36367)
Gene: ZBTB18
Phenotype: Short stature (HP:0004322)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Long nose (HP:0003189)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Epicanthus (HP:0000286)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Epicanthus (HP:0000286)
Associated disease: Distal deletion 1q syndrome; Telomeric deletion 1q; Monosomy 1qter; Distal monosomy 1q (ORPHA:36367)
Gene: ZBTB18
Phenotype: Microcephaly (HP:0000252)
Associated disease: Distal deletion 1q syndrome; Telomeric deletion 1q; Monosomy 1qter; Distal monosomy 1q (ORPHA:36367)
Gene: ZBTB18
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Distal deletion 1q syndrome; Telomeric deletion 1q; Monosomy 1qter; Distal monosomy 1q (ORPHA:36367)
Gene: ZBTB18
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Growth delay (HP:0001510)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Low-set ears (HP:0000369)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Low-set ears (HP:0000369)
Associated disease: Distal deletion 1q syndrome; Telomeric deletion 1q; Monosomy 1qter; Distal monosomy 1q (ORPHA:36367)
Gene: ZBTB18
Phenotype: Micrognathia (HP:0000347)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Micrognathia (HP:0000347)
Associated disease: Distal deletion 1q syndrome; Telomeric deletion 1q; Monosomy 1qter; Distal monosomy 1q (ORPHA:36367)
Gene: ZBTB18
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Distal deletion 1q syndrome; Telomeric deletion 1q; Monosomy 1qter; Distal monosomy 1q (ORPHA:36367)
Gene: ZBTB18
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Distal deletion 1q syndrome; Telomeric deletion 1q; Monosomy 1qter; Distal monosomy 1q (ORPHA:36367)
Gene: ZBTB18
Phenotype: Round face (HP:0000311)
Associated disease: Distal deletion 1q syndrome; Telomeric deletion 1q; Monosomy 1qter; Distal monosomy 1q (ORPHA:36367)
Gene: ZBTB18
Phenotype: Round face (HP:0000311)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Short philtrum (HP:0000322)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Distal deletion 1q syndrome; Telomeric deletion 1q; Monosomy 1qter; Distal monosomy 1q (ORPHA:36367)
Gene: ZBTB18
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Telecanthus (HP:0000506)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: ZBTB18
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Distal deletion 1q syndrome; Telomeric deletion 1q; Monosomy 1qter; Distal monosomy 1q (ORPHA:36367)
Gene: ZBTB18
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Gene: SLC9A6
Phenotype: Adducted thumb (HP:0001181)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Seizure (HP:0001250)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Ataxia (HP:0001251)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Slender finger (HP:0001238)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Absent speech (HP:0001344)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Scoliosis (HP:0002650)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Open mouth (HP:0000194)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)