TaoMedAI/RareMedData huggingface dataset:
Gene: SAMHD1
Phenotype: Extrapyramidal muscular rigidity (HP:0007076)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Multifocal cerebral white matter abnormalities (HP:0007052)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Loss of speech (HP:0002371)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
Gene: SAMHD1
Phenotype: Headache (HP:0002315)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Myositis (HP:0100614)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Developmental glaucoma (HP:0001087)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Calcification of the aorta (HP:0004963)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
Gene: SAMHD1
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Chronic lymphatic leukemia (HP:0005550)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Unexplained fevers (HP:0001955)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Eyelid coloboma (HP:0000625)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Short stature (HP:0004322)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Antenatal onset (HP:0030674)
Associated disease: AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
Gene: SAMHD1
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Arthropathy (HP:0003040)
Associated disease: AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
Gene: SAMHD1
Phenotype: Irritability (HP:0000737)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Irritability (HP:0000737)
Associated disease: AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
Gene: SAMHD1
Phenotype: Childhood onset (HP:0011463)
Associated disease: AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
Gene: SAMHD1
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHILBLAIN LUPUS 2 (OMIM:614415)
Gene: SAMHD1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: CHILBLAIN LUPUS 2 (OMIM:614415)
Gene: SAMHD1
Phenotype: Dry skin (HP:0000958)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Dry skin (HP:0000958)
Associated disease: AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
Gene: SAMHD1
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Degeneration of the striatum (HP:0040140)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Scaling skin (HP:0040189)
Associated disease: AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
Gene: SAMHD1
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Microcephaly (HP:0000252)
Associated disease: AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
Gene: SAMHD1
Phenotype: Enchondroma (HP:0030038)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Panniculitis (HP:0012490)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Ptosis (HP:0000508)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Increased circulating interferon-gamma concentration (HP:0030356)
Associated disease: AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
Gene: SAMHD1
Phenotype: Increased circulating interferon-gamma concentration (HP:0030356)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: SAMHD1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
Gene: SIN3A
Phenotype: Abnormal thumb morphology (HP:0001172)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Brachydactyly (HP:0001156)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Myelomeningocele (HP:0002475)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Anisocoria (HP:0009916)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Uplifted earlobe (HP:0009909)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: High anterior hairline (HP:0009890)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: High anterior hairline (HP:0009890)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Sporadic (HP:0003745)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Motor delay (HP:0001270)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3A
Phenotype: Seizure (HP:0001250)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Seizure (HP:0001250)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3A
Phenotype: Hypotonia (HP:0001252)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Hypotonia (HP:0001252)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3A
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3A
Phenotype: Hypospadias (HP:0000047)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Hypospadias (HP:0000047)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Scoliosis (HP:0002650)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Scoliosis (HP:0002650)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Open mouth (HP:0000194)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3A
Phenotype: Narrow mouth (HP:0000160)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: High, narrow palate (HP:0002705)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3A
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Anal atresia (HP:0002023)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Constipation (HP:0002019)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Frontal bossing (HP:0002007)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Glue ear (HP:0040262)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3A
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Sleep apnea (HP:0010535)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Overhanging nasal tip (HP:0011833)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Infantile onset (HP:0003593)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Poor motor coordination (HP:0002275)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Congenital onset (HP:0003577)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Fine hair (HP:0002213)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Fine hair (HP:0002213)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3A
Phenotype: Hernia (HP:0100790)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Mild malformation of cortical development (HP:0032059)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3A
Phenotype: Male urethral meatus stenosis (HP:0032077)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Hyperplasia of the maxilla (HP:0430028)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Developmental regression (HP:0002376)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Small hand (HP:0200055)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Small hand (HP:0200055)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Branchial fistula (HP:0009795)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Short thumb (HP:0009778)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Neonatal onset (HP:0003623)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Short palm (HP:0004279)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Nystagmus (HP:0000639)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Iris coloboma (HP:0000612)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)