Generalized hypotonia, and Micropenis

Diseases related with Generalized hypotonia and Micropenis

In the following list you will find some of the most common rare diseases related to Generalized hypotonia and Micropenis that can help you solving undiagnosed cases.

Top matches:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW; CDG1W Is also known as cdgiw|cdg iw

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW; CDG1W

High match STT3B-CDG

STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).

STT3B-CDG Is also known as cdg syndrome type ix|congenital disorder of glycosylation type ix|cdg1x|carbohydrate deficient glycoprotein syndrome type ix|cdg-ix|congenital disorder of glycosylation type 1x

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about STT3B-CDG

High match STT3A-CDG

STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).

STT3A-CDG Is also known as congenital disorder of glycosylation type 1w|congenital disorder of glycosylation type iw|cdgix|cdg ix|cdg1w|cdg-iw|cdg syndrome type iw

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about STT3A-CDG

Other less relevant matches:

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 59; RP59

16P13.2 MICRODELETION SYNDROME Is also known as del(16)(p13.2)|monosomy 16p13.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about 16P13.2 MICRODELETION SYNDROME

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as dystroglycanopathies (summary by Buysse et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3gnt1-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13

Joubert syndrome-26 is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by Sanders et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 26; JBTS26

X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.

NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME Is also known as deafness, sensorineural, with pituitary dwarfism|non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome|pituitary hormone deficiency, combined, with rigid cervical spine

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME

Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems (summary by Kury et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about STANKIEWICZ-ISIDOR SYNDROME; STISS

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Micropenis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Micropenis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties Intrauterine growth retardation Delayed speech and language development Scrotal hypoplasia Strabismus Cerebellar hypoplasia Nystagmus Spasticity Hearing impairment Autism Microcephaly Abnormal glycosylation Thrombocytopenia Cerebellar atrophy Respiratory distress Optic atrophy

Rare Symptoms - Less than 30% cases

Frontal bossing Prominent nose Growth hormone deficiency Ataxia Short stature Low-set ears Muscular hypotonia Abnormal facial shape Apraxia Hypertelorism Cognitive impairment Panhypopituitarism Growth delay Sensorineural hearing impairment Motor delay Blindness External genital hypoplasia Long nose Intention tremor Focal impaired awareness seizure Prominent supraorbital ridges Cerebellar vermis hypoplasia Enlarged cisterna magna Microphallus Abnormality of the philtrum Retrocerebellar cyst Poor eye contact Dysmetria Hypotelorism Intellectual disability, moderate Gait ataxia Mandibular prognathia Macrotia Thin upper lip vermilion Deeply set eye Neonatal hypotonia Attention deficit hyperactivity disorder Focal-onset seizure Short philtrum Neurological speech impairment Poor speech Disorganization of the anterior cerebellar vermis Long face Abnormal cerebellum morphology Triangular face Infra-orbital crease Increased body weight Abnormality of the skeletal system Retrognathia Lumbar kyphosis Hypothalamic luteinizing hormone-releasing hormone deficiency Micrognathia Visual impairment Behavioral abnormality Hypospadias Patent ductus arteriosus Abnormality of the kidney Thoracolumbar kyphoscoliosis Abnormal cardiac septum morphology Facial asymmetry Short thumb Cerebral visual impairment Horizontal nystagmus Absent thumb Shawl scrotum Truncus arteriosus Pituitary dwarfism Abnormal anterior horn cell morphology Short neck Cyanosis Myopathy Kyphosis Severe short stature Skeletal dysplasia Jaundice Hyperlordosis Carious teeth Joint hypermobility Small nail Prolactin deficiency Hyperactivity Hyperextensible skin Hypopituitarism Thoracic kyphosis Pituitary hypothyroidism Adrenocorticotropic hormone deficiency Gonadotropin deficiency Anterior pituitary hypoplasia Cerebral cortical atrophy Cleft lip Prominent forehead Speech apraxia Aggressive behavior Autistic behavior Large fontanelles Trigonocephaly Hallux valgus Delayed cranial suture closure Perseveration Absent speech Central sleep apnea Premature adrenarche Hypoplasia of the corpus callosum Hydrocephalus Elevated serum creatine phosphokinase Agenesis of corpus callosum Hydronephrosis Clinodactyly of the 5th finger Cystoid macular edema Renal cyst Hypertonia Abnormality of the genital system Decreased liver function Optic nerve hypoplasia Impaired smooth pursuit Hepatomegaly Edema Renal insufficiency Macular edema Rod-cone dystrophy Elevated hepatic transaminase Muscular hypotonia of the trunk Retinal degeneration Pigmentary retinopathy Status epilepticus Attenuation of retinal blood vessels Muscular dystrophy Dandy-Walker malformation Dilatation Bilateral ptosis Recurrent infections Hypothyroidism Oculomotor apraxia Tachypnea Cone/cone-rod dystrophy Recurrent upper respiratory tract infections Molar tooth sign on MRI Ptosis Central hypothyroidism Ectopic posterior pituitary Inferior vermis hypoplasia Macrocephaly Tremor Ventriculomegaly Intellectual disability, severe Anteverted nares Cleft palate Decreased testicular size Congenital muscular dystrophy Encephalocele Heterotopia Renal dysplasia Opacification of the corneal stroma Severe muscular hypotonia Lissencephaly Hypoplasia of the brainstem Optic nerve dysplasia Cortical dysplasia Absent septum pellucidum Occipital encephalocele Anencephaly Retinal dysplasia Type II lissencephaly Renal cortical cysts Pineal cyst


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