TaoMedAI/RareMedData huggingface dataset:
Gene: KMT2B
Phenotype: Long face (HP:0000276)
Associated disease: Dystonia 28; DYT28; KMT2B-related dystonia (ORPHA:589618)
Gene: KMT2B
Phenotype: Microcephaly (HP:0000252)
Associated disease: Dystonia 28; DYT28; KMT2B-related dystonia (ORPHA:589618)
Gene: KMT2B
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Microcephaly (HP:0000252)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: High palate (HP:0000218)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Absent earlobe (HP:0000387)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Dysphonia (HP:0001618)
Associated disease: Dystonia 28; DYT28; KMT2B-related dystonia (ORPHA:589618)
Gene: KMT2B
Phenotype: Dysphonia (HP:0001618)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Astigmatism (HP:0000483)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: Astigmatism (HP:0000483)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Strabismus (HP:0000486)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: Strabismus (HP:0000486)
Associated disease: Dystonia 28; DYT28; KMT2B-related dystonia (ORPHA:589618)
Gene: KMT2B
Phenotype: Strabismus (HP:0000486)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: Deeply set eye (HP:0000490)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Torticollis (HP:0000473)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: Torticollis (HP:0000473)
Associated disease: Dystonia 28; DYT28; KMT2B-related dystonia (ORPHA:589618)
Gene: KMT2B
Phenotype: Bulbous nose (HP:0000414)
Associated disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Gene: KMT2B
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Dystonia 28; DYT28; KMT2B-related dystonia (ORPHA:589618)
Gene: KMT2B
Phenotype: Bulbous nose (HP:0000414)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Ptosis (HP:0000508)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: KMT2B
Phenotype: Hypermetropia (HP:0000540)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Gene: FRMPD4
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: Ataxia (HP:0001251)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: Spasticity (HP:0001257)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: Tremor (HP:0001337)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: Nystagmus (HP:0000639)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: Retrognathia (HP:0000278)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: High palate (HP:0000218)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: High forehead (HP:0000348)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: Bifid nasal tip (HP:0000456)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: FRMPD4
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Gene: HDAC4
Phenotype: Hyperextensibility of the finger joints (HP:0001187)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC4
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC4
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Motor delay (HP:0001270)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Seizure (HP:0001250)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Seizure (HP:0001250)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Hypotonia (HP:0001252)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC4
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC4
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC4
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Skin-picking (HP:0012166)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Delayed closure of the anterior fontanelle (HP:0001476)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Short fourth metatarsal (HP:0004689)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC4
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Apnea (HP:0002104)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Congenital onset (HP:0003577)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC4
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Small hand (HP:0200055)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Broad columella (HP:0010761)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC4
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Drooling (HP:0002307)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC4
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC4
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Short palm (HP:0004279)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC4
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)