TaoMedAI/RareMedData huggingface dataset:
Gene: MORC2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Tremor (HP:0001337)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY (OMIM:619090)
Gene: MORC2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Scoliosis (HP:0002650)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY (OMIM:619090)
Gene: MORC2
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Proximal upper limb amyotrophy (HP:0008948)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Muscle spasm (HP:0003394)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Muscle spasm (HP:0003394)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY (OMIM:619090)
Gene: MORC2
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY (OMIM:619090)
Gene: MORC2
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Babinski sign (HP:0003487)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Babinski sign (HP:0003487)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY (OMIM:619090)
Gene: MORC2
Phenotype: Babinski sign (HP:0003487)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY (OMIM:619090)
Gene: MORC2
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY (OMIM:619090)
Gene: MORC2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Decreased amplitude of sensory action potentials (HP:0007078)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Fasciculations (HP:0002380)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Fasciculations (HP:0002380)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Impaired tactile sensation (HP:0010830)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Incoordination (HP:0002311)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Clumsiness (HP:0002312)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Impaired distal proprioception (HP:0006858)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Atrophy of the spinal cord (HP:0006827)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Difficulty running (HP:0009046)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY (OMIM:619090)
Gene: MORC2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Tongue tremor (HP:0031947)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Short stature (HP:0004322)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY (OMIM:619090)
Gene: MORC2
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Impaired distal tactile sensation (HP:0006937)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY (OMIM:619090)
Gene: MORC2
Phenotype: Flexion contracture of finger (HP:0012785)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Young adult onset (HP:0011462)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Upper limb amyotrophy (HP:0009129)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Abnormal peripheral myelination (HP:0003130)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Congenital finger flexion contractures (HP:0005879)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Abnormal motor nerve conduction velocity (HP:0040131)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Abnormality of peripheral somatosensory evoked potentials (HP:0100290)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY (OMIM:619090)
Gene: MORC2
Phenotype: Microcephaly (HP:0000252)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Fatigue (HP:0012378)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Diaphragmatic paralysis (HP:0006597)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY (OMIM:619090)
Gene: MORC2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Hand muscle weakness (HP:0030237)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Brain atrophy (HP:0012444)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Pes planus (HP:0001763)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Hammertoe (HP:0001765)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY (OMIM:619090)
Gene: MORC2
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Pes cavus (HP:0001761)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Cataract (HP:0000518)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY (OMIM:619090)
Gene: WDR37
Phenotype: Seizure (HP:0001250)
Associated disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Gene: WDR37
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Gene: WDR37
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Gene: WDR37
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Gene: WDR37
Phenotype: Absent speech (HP:0001344)
Associated disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Gene: WDR37
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Gene: WDR37
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Gene: WDR37
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Gene: WDR37
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Gene: WDR37
Phenotype: Abnormality of the palmar creases (HP:0010490)
Associated disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Gene: WDR37
Phenotype: Peters anomaly (HP:0000659)
Associated disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Gene: WDR37
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Gene: WDR37
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Gene: WDR37
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Gene: WDR37
Phenotype: High forehead (HP:0000348)
Associated disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Gene: WDR37
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Gene: WDR37
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Gene: WDR37
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Gene: WDR37
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Gene: WDR37
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Gene: WDR37
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Gene: WDR37
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Gene: WDR37
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Gene: WDR37
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Gene: WDR37
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Gene: WDR37
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Gene: WDR37
Phenotype: Coloboma (HP:0000589)
Associated disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Gene: WDR37
Phenotype: Microphthalmia (HP:0000568)
Associated disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Gene: ZNF365
Phenotype: Abnormal rapid eye movement sleep (HP:0002494)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: ZNF365
Phenotype: NREM parasomnia (HP:0025235)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: ZNF365
Phenotype: Sleep paralysis (HP:0025233)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: ZNF365
Phenotype: Syncope (HP:0001279)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: ZNF365
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Narcolepsy type 2; Narcolepsy without cataplexy (ORPHA:83465)
Gene: ZNF365
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: ZNF365
Phenotype: Hypnagogic hallucination (HP:0002519)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: ZNF365
Phenotype: Cataplexy (HP:0002524)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: ZNF365
Phenotype: Slurred speech (HP:0001350)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: ZNF365
Phenotype: Nocturia (HP:0000017)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: ZNF365
Phenotype: Abnormal pupillary function (HP:0007686)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: ZNF365
Phenotype: Constipation (HP:0002019)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: ZNF365
Phenotype: Male sexual dysfunction (HP:0040307)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: ZNF365
Phenotype: Migraine (HP:0002076)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: ZNF365
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)