TaoMedAI/RareMedData huggingface dataset:
Gene: SQSTM1
Phenotype: Disinhibition (HP:0000734)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 (OMIM:616437)
Gene: SQSTM1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: SQSTM1
Phenotype: Apathy (HP:0000741)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: SQSTM1
Phenotype: Apathy (HP:0000741)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: SQSTM1
Phenotype: Apathy (HP:0000741)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 (OMIM:616437)
Gene: SQSTM1
Phenotype: Inappropriate behavior (HP:0000719)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: SQSTM1
Phenotype: Depression (HP:0000716)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: SQSTM1
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SQSTM1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: SQSTM1
Phenotype: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SQSTM1
Phenotype: Restlessness (HP:0000711)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: SQSTM1
Phenotype: Hyperorality (HP:0000710)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: SQSTM1
Phenotype: Restrictive behavior (HP:0000723)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: SQSTM1
Phenotype: Psychosis (HP:0000709)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: SQSTM1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: SQSTM1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SQSTM1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: SQSTM1
Phenotype: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SQSTM1
Phenotype: Myopathy (HP:0003198)
Associated disease: Distal myopathy, Welander type; WDM (ORPHA:603)
Gene: SQSTM1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: PAGET DISEASE OF BONE 3 (OMIM:167250)
Gene: SQSTM1
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET (OMIM:617145)
Gene: SQSTM1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY, DISTAL, WITH RIMMED VACUOLES (OMIM:617158)
Gene: SQSTM1
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SQSTM1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MYOPATHY, DISTAL, WITH RIMMED VACUOLES (OMIM:617158)
Gene: SQSTM1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SQSTM1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 (OMIM:616437)
Gene: SQSTM1
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SQSTM1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SQSTM1
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SQSTM1
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SQSTM1
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SQSTM1
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SQSTM1
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SQSTM1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PAGET DISEASE OF BONE 3 (OMIM:167250)
Gene: SQSTM1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET (OMIM:617145)
Gene: SQSTM1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Distal myopathy, Welander type; WDM (ORPHA:603)
Gene: SQSTM1
Phenotype: Emotional dearth (HP:0030213)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: SQSTM1
Phenotype: Collectionism (HP:0030212)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: SQSTM1
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SQSTM1
Phenotype: Perseverative thought (HP:0030223)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: SQSTM1
Phenotype: Perseverative thought (HP:0030223)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: SQSTM1
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: SQSTM1
Phenotype: Vertical supranuclear gaze palsy (HP:0000511)
Associated disease: NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET (OMIM:617145)
Gene: SQSTM1
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SQSTM1
Phenotype: Ptosis (HP:0000508)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: SQSTM1
Phenotype: EEG with continuous slow activity (HP:0011204)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: SQSTM1
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SGPL1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Seizure (HP:0001250)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Ataxia (HP:0001251)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Proteinuria (HP:0000093)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Micropenis (HP:0000054)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Podocyte foot process effacement (HP:0031266)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Developmental regression (HP:0002376)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Progressive (HP:0003676)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Edema (HP:0000969)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Strabismus (HP:0000486)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Ptosis (HP:0000508)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Steroid-resistant nephrotic syndrome (HP:0012588)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Mesangial hypercellularity (HP:0012574)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: SGPL1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Gene: ZPR1
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Micropenis (HP:0000054)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Generalized hypopigmentation (HP:0007513)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Azotemia (HP:0002157)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Cerebellar cortical atrophy (HP:0008278)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Hypoplasia of eyelid (HP:0430009)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Short stature (HP:0004322)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Short nose (HP:0003196)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Full cheeks (HP:0000293)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Alopecia (HP:0001596)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Microcephaly (HP:0000252)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Genu valgum (HP:0002857)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: ZPR1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Gene: NAE1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA (OMIM:620210)
Gene: NAE1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA (OMIM:620210)
Gene: NAE1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA (OMIM:620210)
Gene: NAE1
Phenotype: Joint dislocation (HP:0001373)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA (OMIM:620210)
Gene: NAE1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA (OMIM:620210)
Gene: NAE1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA (OMIM:620210)
Gene: NAE1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA (OMIM:620210)
Gene: NAE1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA (OMIM:620210)
Gene: NAE1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA (OMIM:620210)
Gene: NAE1
Phenotype: Cleft palate (HP:0000175)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA (OMIM:620210)
Gene: NAE1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA (OMIM:620210)
Gene: NAE1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA (OMIM:620210)
Gene: NAE1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA (OMIM:620210)
Gene: NAE1
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA (OMIM:620210)
Gene: NAE1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA (OMIM:620210)
Gene: NAE1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA (OMIM:620210)
Gene: NAE1
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA (OMIM:620210)
Gene: NAE1
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA (OMIM:620210)
Gene: NAE1
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA (OMIM:620210)
Gene: NAE1
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA (OMIM:620210)
Gene: NAE1
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA (OMIM:620210)
Gene: NAE1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA (OMIM:620210)
Gene: NAE1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA (OMIM:620210)
Gene: NAE1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA (OMIM:620210)
Gene: NAE1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA (OMIM:620210)
Gene: NAE1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA (OMIM:620210)
Gene: SLC5A6
Phenotype: Poor head control (HP:0002421)
Associated disease: NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE (OMIM:618973)
Gene: SLC5A6
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE (OMIM:618973)
Gene: SLC5A6
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE (OMIM:618973)
Gene: SLC5A6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE (OMIM:619903)
Gene: SLC5A6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE (OMIM:618973)
Gene: SLC5A6
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE (OMIM:618973)
Gene: SLC5A6
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE (OMIM:618973)
Gene: SLC5A6
Phenotype: Fiber type grouping (HP:0033685)
Associated disease: PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE (OMIM:619903)
Gene: SLC5A6
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE (OMIM:619903)
Gene: SLC5A6
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE (OMIM:619903)
Gene: SLC5A6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE (OMIM:618973)
Gene: SLC5A6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE (OMIM:619903)
Gene: SLC5A6
Phenotype: Dysmetria (HP:0001310)
Associated disease: PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE (OMIM:619903)
Gene: SLC5A6
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE (OMIM:618973)
Gene: SLC5A6
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE (OMIM:619903)
Gene: SLC5A6
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE (OMIM:618973)
Gene: SLC5A6
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE (OMIM:619903)
Gene: SLC5A6
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE (OMIM:618973)
Gene: SLC5A6
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE (OMIM:618973)
Gene: SLC5A6
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE (OMIM:618973)