TaoMedAI/RareMedData huggingface dataset:
Gene: OCRL
Phenotype: Long face (HP:0000276)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Chorioretinal dysplasia (HP:0007731)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Hip dislocation (HP:0002827)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Kyphosis (HP:0002808)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Kyphosis (HP:0002808)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Gingivitis (HP:0000230)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Genu valgum (HP:0002857)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Genu valgum (HP:0002857)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Death in infancy (HP:0001522)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: DENT DISEASE 2 (OMIM:300555)
Gene: OCRL
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Failure to thrive (HP:0001508)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Long philtrum (HP:0000343)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Micrognathia (HP:0000347)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Dense posterior cortical cataract (HP:0007948)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Strabismus (HP:0000486)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Protruding ear (HP:0000411)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Flat occiput (HP:0005469)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Cataract (HP:0000518)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Developmental cataract (HP:0000519)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Visual impairment (HP:0000505)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Glaucoma (HP:0000501)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Glaucoma (HP:0000501)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Buphthalmos (HP:0000557)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Corneal scarring (HP:0000559)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Gene: OCRL
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: OCRL
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Lowe oculo-cerebro-renal syndrome; Oculocerebrorenal syndrome of Lowe; Lowe oculo-cerebro-renal dystrophy; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe syndrome; Lowe disease; OCRL; Lowe oculocerebrorenal dystrophy (ORPHA:534)
Gene: ODC1
Phenotype: Tapered finger (HP:0001182)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Poor speech (HP:0002465)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Seizure (HP:0001250)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Spasticity (HP:0001257)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Absent speech (HP:0001344)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Focal polymicrogyria (HP:0032471)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Celiac disease (HP:0002608)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Recurrent ear infections (HP:0410018)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Large forehead (HP:0002003)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Asthma (HP:0002099)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Dysgenesis of the cerebellar vermis (HP:0002195)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Dilated third ventricle (HP:0007082)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Thick corpus callosum (HP:0007074)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Abnormal cerebellar vermis morphology (HP:0002334)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Periventricular cysts (HP:0007109)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Periventricular cysts (HP:0007109)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Tapered toe (HP:0011309)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Rib fusion (HP:0000902)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Macrocephaly at birth (HP:0004488)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Dry skin (HP:0000958)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Retrognathia (HP:0000278)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Alopecia (HP:0001596)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: High palate (HP:0000218)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)