gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0012407 5 tip-toe gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0030051 6 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407 7 hyperreflexia 59 Very frequent (99 [malacards.org]

[…] dominant PACS1 11q13.1-q13.2 Schuurs-Hoeijmakers syndrome 615009 607492 Autosomal dominant PAFAH1B1 17p13.3 Lissencephaly 1 607432 601545 Isolated cases PAH 12q23.2 [Hyperphenylalaninemia, non-PKU mild] 261600 612349 Autosomal recessive PAH 12q23.2 Phenylketonuria [mnglabs.com]

Paraplegia 24, Autosomal Recessive Summaries for Spastic Paraplegia 24, Autosomal Recessive Symptoms & Phenotypes for Spastic Paraplegia 24, Autosomal Recessive Symptoms via clinical synopsis from OMIM: 57 Neurologic Central Nervous System: spasticity hyperreflexia [malacards.org]

Affected individuals may have sensory neuropathy, motor neuropathy, hyperreflexia of the lower limbs, muscular atrophy or decreased bladder control. Rarely, the disease is associated with parkinsonism. [ivami.com]

People with this form of spastic paraplegia can also experience exaggerated reflexes (hyperreflexia) in the arms; speech difficulties (dysarthria); difficulty swallowing (dysphagia); involuntary movements of the eyes (nystagmus); mild hearing loss; abnormal [ghr.nlm.nih.gov]

[…] spasticity is increased at the hamstrings, quadriceps and ankles  Weakness is most notable at the iliopsoas, tibialis anterior, hamstring muscles  difficulty in walking, decreased vibratory sense at the ankles, and paresthesia  In lower extremities hyperreflexia [slideshare.net]

Hyperreflexia and extensor plantar responses are often present. Cognitive deficits are manifest as deficits in attention and higher levels of reasoning. Some patients have a mild peripheral neuropathy with decreased vibratory sense. [disorders.eyes.arizona.edu]

Autosomal Recessive Summaries for Spastic Paraplegia 24, Autosomal Recessive Symptoms & Phenotypes for Spastic Paraplegia 24, Autosomal Recessive Symptoms via clinical synopsis from OMIM: 57 Neurologic Central Nervous System: spasticity hyperreflexia clonus [malacards.org]

These symptoms can include: Leg cramps Paresthesia Muscle spasms Highly arched feet Bladder control problems Relatively mild muscle wasting Diminished vibration sense in the feet Ankle clonus or abnormal reflex movements of the foot While it is less common [disabled-world.com]

This can lead to uncontrollable shaking (clonus) of the feet and scissoring of the legs while walking. Often the changes are so slowly progressive that patients do not notice subtle symptoms for several years. [encyclopedia.com]

He had increased reflexes in all limbs with ankles clonus and bilateral extensor plantar reflexes. There was mild wasting in the upper limbs. He reported having mild urinary urgency and painful legs. Ocular pursuit was saccadic. [academic.oup.com]