TaoMedAI/RareMedData huggingface dataset:
Gene: DYM
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Genu valgum (HP:0002857)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Genu valgum (HP:0002857)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Genu valgum (HP:0002857)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Camptodactyly (HP:0012385)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Flaring of lower rib cage (HP:0006589)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Tibial bowing (HP:0002982)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Femoral bowing (HP:0002980)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Genu varum (HP:0002970)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Genu varum (HP:0002970)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Glenoid fossa hypoplasia (HP:0006633)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Short neck (HP:0000470)
Associated disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Gene: DYM
Phenotype: Short neck (HP:0000470)
Associated disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Gene: DYM
Phenotype: Short neck (HP:0000470)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Prominent calcaneus (HP:0012428)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Broad foot (HP:0001769)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Pes planus (HP:0001763)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYM
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Gene: DYM
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYM
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SAMD9
Phenotype: Sepsis (HP:0100806)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Motor delay (HP:0001270)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Seizure (HP:0001250)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Achalasia (HP:0002571)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Hypospadias (HP:0000047)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL (OMIM:610455)
Gene: SAMD9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2 (OMIM:619041)
Gene: SAMD9
Phenotype: Scoliosis (HP:0002650)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Hypoplastic spleen (HP:0006270)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Abnormal blood phosphate concentration (HP:0100529)
Associated disease: TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL (OMIM:610455)
Gene: SAMD9
Phenotype: Esophageal stricture (HP:0002043)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Abnormality of vitamin D metabolism (HP:0100511)
Associated disease: TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL (OMIM:610455)
Gene: SAMD9
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Paraplegia (HP:0010550)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Infantile onset (HP:0003593)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Infantile onset (HP:0003593)
Associated disease: TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL (OMIM:610455)
Gene: SAMD9
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2 (OMIM:619041)
Gene: SAMD9
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2 (OMIM:619041)
Gene: SAMD9
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2 (OMIM:619041)
Gene: SAMD9
Phenotype: Decreased circulating parathyroid hormone level (HP:0031817)
Associated disease: TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL (OMIM:610455)
Gene: SAMD9
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Anemia (HP:0001903)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Anemia (HP:0001903)
Associated disease: MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2 (OMIM:619041)
Gene: SAMD9
Phenotype: Decreased body weight (HP:0004325)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Short stature (HP:0004322)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Abnormal circulating calcium concentration (HP:0004363)
Associated disease: TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL (OMIM:610455)
Gene: SAMD9
Phenotype: Childhood onset (HP:0011463)
Associated disease: MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2 (OMIM:619041)
Gene: SAMD9
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Petechiae (HP:0000967)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Calcinosis cutis (HP:0025520)
Associated disease: TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL (OMIM:610455)
Gene: SAMD9
Phenotype: Gingivitis (HP:0000230)
Associated disease: TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL (OMIM:610455)
Gene: SAMD9
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2 (OMIM:619041)
Gene: SAMD9
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Hyponatremia (HP:0002902)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Radial club hand (HP:0004059)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Microphallus (HP:0030260)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL (OMIM:610455)
Gene: SAMD9
Phenotype: Megakaryocyte dysplasia (HP:0031689)
Associated disease: MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2 (OMIM:619041)
Gene: SAMD9
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: MIRAGE SYNDROME (OMIM:617053)
Gene: SAMD9
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2 (OMIM:619041)
Gene: SAMD9
Phenotype: Pancytopenia (HP:0001876)
Associated disease: MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2 (OMIM:619041)
Gene: SAMD9
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2 (OMIM:619041)
Gene: NDE1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Infantile sensorineural hearing impairment (HP:0008610)
Associated disease: Hydranencephaly (ORPHA:2177)
Gene: NDE1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: LISSENCEPHALY 4 (OMIM:614019)
Gene: NDE1
Phenotype: Poor head control (HP:0002421)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Stiff neck (HP:0025258)
Associated disease: Hydranencephaly (ORPHA:2177)
Gene: NDE1
Phenotype: Hypertonia (HP:0001276)
Associated disease: LISSENCEPHALY 4 (OMIM:614019)
Gene: NDE1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: LISSENCEPHALY 4 (OMIM:614019)
Gene: NDE1
Phenotype: Meningitis (HP:0001287)
Associated disease: Hydranencephaly (ORPHA:2177)
Gene: NDE1
Phenotype: Lethargy (HP:0001254)
Associated disease: Hydranencephaly (ORPHA:2177)
Gene: NDE1
Phenotype: Seizure (HP:0001250)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Seizure (HP:0001250)
Associated disease: Hydranencephaly (ORPHA:2177)
Gene: NDE1
Phenotype: Seizure (HP:0001250)
Associated disease: LISSENCEPHALY 4 (OMIM:614019)
Gene: NDE1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: Hydranencephaly (ORPHA:2177)
Gene: NDE1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Hydranencephaly (ORPHA:2177)
Gene: NDE1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LISSENCEPHALY 4 (OMIM:614019)
Gene: NDE1
Phenotype: Atrophic pituitary gland (HP:0410279)
Associated disease: Hydranencephaly (ORPHA:2177)
Gene: NDE1
Phenotype: Abnormal corpus striatum morphology (HP:0010994)
Associated disease: Hydranencephaly (ORPHA:2177)
Gene: NDE1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Abnormal muscle tone (HP:0003808)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Abnormal calvaria morphology (HP:0002683)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: LISSENCEPHALY 4 (OMIM:614019)
Gene: NDE1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Hydranencephaly (ORPHA:2177)
Gene: NDE1
Phenotype: Lissencephaly (HP:0001339)
Associated disease: LISSENCEPHALY 4 (OMIM:614019)
Gene: NDE1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LISSENCEPHALY 4 (OMIM:614019)
Gene: NDE1
Phenotype: Pachygyria (HP:0001302)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: LISSENCEPHALY 4 (OMIM:614019)
Gene: NDE1
Phenotype: Hypoplastic spleen (HP:0006270)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Babinski sign (HP:0003487)
Associated disease: LISSENCEPHALY 4 (OMIM:614019)
Gene: NDE1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Hydranencephaly (ORPHA:2177)
Gene: NDE1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Hydranencephaly (ORPHA:2177)
Gene: NDE1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: LISSENCEPHALY 4 (OMIM:614019)
Gene: NDE1
Phenotype: Opisthotonus (HP:0002179)
Associated disease: Hydranencephaly (ORPHA:2177)
Gene: NDE1
Phenotype: Cutis gyrata of scalp (HP:0010541)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Congenital onset (HP:0003577)
Associated disease: LISSENCEPHALY 4 (OMIM:614019)
Gene: NDE1
Phenotype: Antenatal intracerebral hemorrhage (HP:0007023)
Associated disease: Hydranencephaly (ORPHA:2177)
Gene: NDE1
Phenotype: Abnormal dura mater morphology (HP:0010652)
Associated disease: Hydranencephaly (ORPHA:2177)
Gene: NDE1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: LISSENCEPHALY 4 (OMIM:614019)
Gene: NDE1
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Hydranencephaly (HP:0002324)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Dysgenesis of the thalamus (HP:0025099)
Associated disease: Hydranencephaly (ORPHA:2177)
Gene: NDE1
Phenotype: Thalamic edema (HP:0025040)
Associated disease: Hydranencephaly (ORPHA:2177)
Gene: NDE1
Phenotype: Athetosis (HP:0002305)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: 4-layered lissencephaly (HP:0006818)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Blindness (HP:0000618)
Associated disease: Hydranencephaly (ORPHA:2177)
Gene: NDE1
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Hydranencephaly (ORPHA:2177)
Gene: NDE1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Hydranencephaly (ORPHA:2177)
Gene: NDE1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Abnormal fontanelle morphology (HP:0011328)
Associated disease: Hydranencephaly (ORPHA:2177)
Gene: NDE1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Short stature (HP:0004322)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Short stature (HP:0004322)
Associated disease: LISSENCEPHALY 4 (OMIM:614019)
Gene: NDE1
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Self-mutilation (HP:0000742)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Abnormal cerebral artery morphology (HP:0009145)
Associated disease: Hydranencephaly (ORPHA:2177)
Gene: NDE1
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: Hydranencephaly (ORPHA:2177)
Gene: NDE1
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: LISSENCEPHALY 4 (OMIM:614019)
Gene: NDE1
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Microlissencephaly (HP:0045028)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Prominent occiput (HP:0000269)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Hypoplastic hippocampus (HP:0025517)
Associated disease: Hydranencephaly (ORPHA:2177)
Gene: NDE1
Phenotype: Colpocephaly (HP:0030048)
Associated disease: LISSENCEPHALY 4 (OMIM:614019)
Gene: NDE1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Hydranencephaly (ORPHA:2177)
Gene: NDE1
Phenotype: Growth delay (HP:0001510)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Growth delay (HP:0001510)
Associated disease: LISSENCEPHALY 4 (OMIM:614019)